Canonical Allele Identifier: CA3710677

Gene: HLA-C

Linked Data

• dbSNP Id: rs767670473
• ExAC: 6:31238908 C / CA
• gnomAD v2: 6-31238908-C-CA
• gnomAD v4: 6-31271131-C-CA
• MyVariant Identifiers: chr6:g.31238908_31238909insA (hg19) ; chr6:g.31271131_31271132insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271131_31271132insA , CM000668.2:g.31271131_31271132insA	GRCh38
NC_000006.11:g.31238908_31238909insA , CM000668.1:g.31238908_31238909insA	GRCh37
NC_000006.10:g.31346887_31346888insA	NCBI36
NG_029422.2:g.6000_6001insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.560_561insT MANE Select	ENSP00000365402.5:p.Cys188ValfsTer?
ENST00000376228.9:c.560_561insT	ENSP00000365402.5:p.Cys188ValfsTer?
ENST00000376237.8:c.*147_*148insT	ENSP00000365412.4:n.*147_*148insT
ENST00000383329.7:c.560_561insT	ENSP00000372819.3:p.Cys188ValfsTer?
ENST00000415537.1:c.558_559insT
ENST00000484378.1:n.829_830insT
ENST00000487245.5:n.919_920insT
ENST00000495835.1:n.749_750insT
NM_002117.5:c.560_561insT	NP_002108.4:p.Cys188ValfsTer?
NM_002117.6:c.560_561insT MANE Select	NP_002108.4:p.Cys188ValfsTer?