Canonical Allele Identifier: CA2677951247
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271130-A-AAT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271130_31271131insAT , CM000668.2:g.31271130_31271131insAT GRCh38
NC_000006.11:g.31238907_31238908insAT , CM000668.1:g.31238907_31238908insAT GRCh37
NC_000006.10:g.31346886_31346887insAT NCBI36
NG_029422.2:g.6001_6002insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.561_562insAT MANE Select ENSP00000365402.5:p.Cys188IlefsTer27
ENST00000376228.9:c.561_562insAT ENSP00000365402.5:p.Cys188IlefsTer27
ENST00000376237.8:c.*148_*149insAT ENSP00000365412.4:n.*148_*149insAT
ENST00000383329.7:c.561_562insAT ENSP00000372819.3:p.Cys188IlefsTer27
ENST00000415537.1:c.559_560insAT
ENST00000484378.1:n.830_831insAT
ENST00000487245.5:n.920_921insAT
ENST00000495835.1:n.750_751insAT
NM_002117.5:c.561_562insAT NP_002108.4:p.Cys188IlefsTer27
NM_002117.6:c.561_562insAT MANE Select NP_002108.4:p.Cys188IlefsTer27
Search 100 bp 5'
Search 100 bp 3'