Canonical Allele Identifier: CA2677951232
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271113-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271114del , CM000668.2:g.31271114del GRCh38
NC_000006.11:g.31238891del , CM000668.1:g.31238891del GRCh37
NC_000006.10:g.31346870del NCBI36
NG_029422.2:g.6018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.578del MANE Select ENSP00000365402.5:p.Arg193ProfsTer21
ENST00000376228.9:c.578del ENSP00000365402.5:p.Arg193ProfsTer21
ENST00000376237.8:c.*165del ENSP00000365412.4:n.*165del
ENST00000383329.7:c.578del ENSP00000372819.3:p.Arg193ProfsTer21
ENST00000415537.1:c.576del
ENST00000484378.1:n.847del
ENST00000487245.5:n.937del
ENST00000495835.1:n.767del
NM_002117.5:c.578del NP_002108.4:p.Arg193ProfsTer21
NM_002117.6:c.578del MANE Select NP_002108.4:p.Arg193ProfsTer21
Search 100 bp 5'
Search 100 bp 3'