Canonical Allele Identifier: CA2677950668
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270348-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270350del , CM000668.2:g.31270350del GRCh38
NC_000006.11:g.31238127del , CM000668.1:g.31238127del GRCh37
NC_000006.10:g.31346106del NCBI36
NG_029422.2:g.6783del

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.756del MANE Select ENSP00000365402.5:p.Glu253SerfsTer?
ENST00000376228.9:c.756del ENSP00000365402.5:p.Glu253SerfsTer?
ENST00000376237.8:c.*343del ENSP00000365412.4:n.*343del
ENST00000383329.7:c.756del ENSP00000372819.3:p.Glu253SerfsTer?
ENST00000415537.1:c.665-18del
ENST00000470363.5:n.74del
ENST00000487245.5:n.1115del
ENST00000495835.1:n.945del
NM_002117.5:c.756del NP_002108.4:p.Glu253SerfsTer?
NM_002117.6:c.756del MANE Select NP_002108.4:p.Glu253SerfsTer?
Search 100 bp 5'
Search 100 bp 3'