Kell > KEL*01.01
Allele Information
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Phenotypes
K
k
Kpa
Kpb
Ku
Jsa
Jsb
Ula
K11
K12
K13
K14
K16
K17
K18
K19
Km
Kpc
K22
K23
K24
VLAN
TOU
RAZ
VONG
KALT
KTIM
KYO
KUCI
KANT
KASH
KELP
KETI
KHUL
KYOR
KEAL
Genetic Changes
nt change aa change Exon/Intron HGVS hg19 hg38 rsNum gnomAD
c.578C>T p.Thr193Met Exon 6 chr7:142,655,008 chr7:142,957,921
 
 
 
 
 
 
 
 
Sequence
Accession: LN899835
Accession: S76771
Accession: AC245136
Accession: S76770
Publication
PubMed ID
Title
7849312
Molecular basis of the Kell (K1) phenotype
7849319
Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin
KR709891
Autoimmune thyroid disease and the polymyalgia rheumatica-giant cell arteritis syndrome.
26996808
New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes
25910212
Widespread macromolecular interaction perturbations in human genetic disorders