Blood Group Database

EKLF Blood Group

EKLF (erythroid Krüppel-like factor) does not represent a blood group system, but is the product of KLF1. Mutations in this gene are responsible for In(Lu), a phenotype inherited in a dominant fashion, and for reduced expression of antigens of the Lutheran system and for P1, Inb , and AnWj antigens.

Antigens

Reference Info

Gene: KLF1
Allele: KLF1*01
Seq: NG_013087.1

(genomic), NM_006563.3

(transcript)
Entrez GeneID: 10661

Number of exons: 3

KLF1

Loading Data ...

allele_category	Phenotype	Allele Name	Nucleotide Changes	Exon	Amino Acid Changes	hg38	rsNum
0:Antigen Alleles	Common	KLF101*
0:Antigen Alleles	In(Lu)	KLF1BGM01*	c.-124T>C		p.0	chr19:12887264
0:Antigen Alleles	In(Lu)	KLF1BGM02*	c.380T>A	Exon 2	p.Leu127*	chr19:12885850
0:Antigen Alleles	In(Lu)	KLF1BGM03*	c.569delC	Exon 2	p.Pro190Leufs*47	chr19:12885661	rs1568420836
0:Antigen Alleles	In(Lu)	KLF1BGM04*	c.874A>T	Exon 2	p.Lys292*	chr19:12885356	rs137852687
0:Antigen Alleles	In(Lu)	KLF1BGM05*	c.895C>T	Exon 2	p.His299Tyr	chr19:12885335	rs137852688
0:Antigen Alleles	In(Lu)	KLF1BGM06*	c.954dupG	Exon 3	p.Arg319Glufs*34	chr19:12885020	rs397514445
0:Antigen Alleles	In(Lu)	KLF1BGM07*	c.983G>T	Exon 3	p.Arg328Leu	chr19:12884991
0:Antigen Alleles	In(Lu)	KLF1BGM08*	c.983G>A	Exon 3	p.Arg328His	chr19:12884991	rs140252918
0:Antigen Alleles	In(Lu)	KLF1BGM09*	c.991C>G	Exon 3	p.Arg331Gly	chr19:12884983
0:Antigen Alleles	CO:-1,-2 IN:-1,-2	KLF1BGM10*	c.973G>A	Exon 3	p.Glu325Lys	chr19:12885001	rs267607201
0:Antigen Alleles	In(Lu)	KLF1BGM11*	c.90G>A	Exon 2	p.Trp30*	chr19:12886140	rs1427628301
0:Antigen Alleles	Obsolete Normal BG phenotype	KLF1BGM12*	c.304T>C	Exon 2	p.Ser102Pro	chr19:12885926	rs2072597
0:Antigen Alleles	In(Lu)	KLF1BGM13*	c.114delC	Exon 2	p.Asp38Glufs*53	chr19:12886116
0:Antigen Alleles	In(Lu)	KLF1BGM14*	c.298G>T	Exon 2	p.Glu100*	chr19:12885932
0:Antigen Alleles	In(Lu)	KLF1BGM15*	c.304T>C c.384insC	Exon 2 Exon 2	p.Ser103Pro p.Lys162Glnfs*352	chr19:12885926 chr19:12885846	rs2072597
0:Antigen Alleles	In(Lu)	KLF1BGM16*	c.304T>C c.1002del2	Exon 2 Intron 3	p.Ser103Pro p.Thr334Glyfs*351	chr19:12885926 chr19:12884970	rs2072597
0:Antigen Alleles	In(Lu)	KLF1BGM17*	c.621C>G	Exon 2	p.Tyr207*	chr19:12885609	rs1599601298
0:Antigen Alleles	In(Lu)	KLF1BGM18*	c.948delC	Exon 3	p.Cys316Trpfs*326	chr19:12885026
0:Antigen Alleles	In(Lu)	KLF1BGM19*	c.1040C>A c.1045delT	Exon 3 Exon 3	p.Ala347Asp p.Ser349Argfs*358	chr19:12884934 chr19:12884929
0:Antigen Alleles	In(Lu)	KLF1BGM20*	c.809C>A	Exon 2	p.Ser270*	chr19:12885421	rs558942739
0:Antigen Alleles	In(Lu)	KLF1BGM21*	c.977T>G	Exon 3	p.Leu326Arg	chr19:12884997	rs397514634
0:Antigen Alleles	In(Lu)	KLF1BGM22*	c.994A>G	Exon 3	p.Lys332Glu	chr19:12884980
0:Antigen Alleles	In(Lu)	KLF1BGM23*	c.517_519delC	Exon 2	p.Pro173ProfsX64	chr19:12885713
0:Antigen Alleles	In(Lu)	KLF1BGM24*	c.551_556delinsA	Exon 2	p.Gly184Glufs*167	chr19:12885679
0:Antigen Alleles	In(Lu)	KLF1BGM25*	c.637C>T	Exon 2	p.Glu213*	chr19:12885593
0:Antigen Alleles	In(Lu)	KLF1BGM26*	c.802C>T	Exon 2	p.Arg268*	chr19:12885428
0:Antigen Alleles	In(Lu)	KLF1BGM27*	c.899T>C	Exon 2	p.Leu300Pro	chr19:12885331	rs763096758
0:Antigen Alleles	In(Lu)	KLF1BGM28*	c.902insT	Exon 2	p.Arg301LeufsX52	chr19:12885328	rs867268157
0:Antigen Alleles	In(Lu)	KLF1BGM29*	c.947G>A	Exon 3	p.Cys316Tyr	chr19:12885027
0:Antigen Alleles	In(Lu)	KLF1BGM30*	c.968C>G	Exon 3	p.Ser323Trp	chr19:12885006
0:Antigen Alleles	In(Lu)	KLF1BGM31*	c.991C>T	Exon 3	p.Arg331Trp	chr19:12884983
0:Antigen Alleles	In(Lu)	KLF1BGM32*	c.310_311insG	Exon 2	p.Ala104Glyfs*249	chr19:12885920
0:Antigen Alleles	In(Lu)	KLF1BGM33*	c.519_520insC	Exon 2	p.Gly174Argfs*179	chr19:12885711
0:Antigen Alleles	In(Lu)	KLF1BGM34*	c.519_525dupCGGCGCC	Exon 2	p.Gly176Argfs*179	chr19:12885711	rs483352838
0:Antigen Alleles	In(Lu)	KLF1BGM35*	c.591C>G	Exon 2	p.Tyr197*	chr19:12885639	rs1297604452
0:Antigen Alleles	In(Lu)	KLF1BGM36*	c.663delG	Exon 2	p.Leu222Serfs*15	chr19:12885567
0:Antigen Alleles	In(Lu)	KLF1BGM37*	c.862A>G	Exon 2	p.Lys288Glu	chr19:12885368
0:Antigen Alleles	In(Lu)	KLF1BGM38*	c.1071C>A	Exon 3	p.His357Gln	chr19:12884903	rs398122931
0:Antigen Alleles	In(Lu)	KLF1BGM39*	c.109C>T	Exon 2	p.Gln37*	chr19:12886121	rs755193431
0:Antigen Alleles	In(Lu)	KLF1BGM40*	c.196G>T	Exon 2	p.Glu66*	chr19:12886034
0:Antigen Alleles	In(Lu)	KLF1BGM41*	c.204delC	Exon 2	p.Gly68Glyfs*169	chr19:12886026
0:Antigen Alleles	In(Lu)	KLF1BGM42*	c.796C>T	Exon 2	p.Arg266*	chr19:12885434	rs756046932
0:Antigen Alleles	In(Lu)	KLF1BGM43*	c.1022G>A	Exon 3	p.Cys341Tyr	chr19:12884952	rs483352839
0:Antigen Alleles	In(Lu)	KLF1BGM44*	c.151delC	Exon 2	p.Leu51Serfs*3	chr19:12886079
0:Antigen Alleles	In(Lu)	KLF1BGM45*	c.826C>T	Exon 2	p.Gln276*	chr19:12885404
0:Antigen Alleles	In(Lu)	KLF1BGM46*	c.868T>C	Exon 2	p.Tyr290His	chr19:12885362
0:Antigen Alleles	In(Lu)	KLF1BGM47*	c.914-1G>C	Intron 2	Splicing failure	chr19:12885061
0:Antigen Alleles	In(Lu)	KLF1BGM48*	c.1001C>T	Exon 3	p.Thr334Met	chr19:12884973	rs483352841
0:Antigen Alleles	In(Lu)	KLF1BGM49*	c.1048C>T	Exon 3	p.Arg350Cys	chr19:12884926	rs1321730417
0:Antigen Alleles	In(Lu)	KLF1BGM50*	c.86A>G	Exon 1	p.Lys29Arg	chr19:12887055
0:Antigen Alleles	In(Lu)	KLF1BGM51*	c.262_284dup	Exon 2	p.Ala95Alafs*150	chr19:12885968
0:Antigen Alleles	In(Lu)	KLF1BGM52*	c.472delG	Exon 2	p.Ala158Profs*79	chr19:12885758
0:Antigen Alleles	In(Lu)	KLF1BGM53*	c.533C>A	Exon 2	p.Ser178*	chr19:12885697
0:Antigen Alleles	In(Lu)	KLF1BGM54*	c.887T>C	Exon 2	p.Leu296Pro	chr19:12885343	rs754996390
0:Antigen Alleles	In(Lu)	KLF1BGM55*	c.939G>A	Exon 3	p.Trp313*	chr19:12885035	rs1364414353
0:Antigen Alleles	In(Lu)	KLF1BGM56*	c.946C>A	Exon 3	p.Arg322Ser	chr19:12885028
0:Antigen Alleles	In(Lu)	KLF1BGM57*	c.1004G>C	Exon 3	p.Gly335Ala	chr19:12884970