Canonical Allele Identifier: CA2677950714

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270452-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270452_31270453insC , CM000668.2:g.31270452_31270453insC	GRCh38
NC_000006.11:g.31238229_31238230insC , CM000668.1:g.31238229_31238230insC	GRCh37
NC_000006.10:g.31346208_31346209insC	NCBI36
NG_029422.2:g.6679_6680insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.652_653insG MANE Select	ENSP00000365402.5:p.Leu218ArgfsTer3
ENST00000376228.9:c.652_653insG	ENSP00000365402.5:p.Leu218ArgfsTer3
ENST00000376237.8:c.*239_*240insG	ENSP00000365412.4:n.*239_*240insG
ENST00000383329.7:c.652_653insG	ENSP00000372819.3:p.Leu218ArgfsTer3
ENST00000415537.1:c.650_651insG
ENST00000487245.5:n.1011_1012insG
ENST00000495835.1:n.841_842insG
NM_002117.5:c.652_653insG	NP_002108.4:p.Leu218ArgfsTer3
NM_002117.6:c.652_653insG MANE Select	NP_002108.4:p.Leu218ArgfsTer3