Canonical Allele Identifier: CA449790017

Gene: HLA-C

Linked Data

• dbSNP Id: rs759148595
• gnomAD v2: 6-31237827-T-TGG
• gnomAD v3: 6-31270050-T-TGG
• gnomAD v4: 6-31270050-T-TGG
• MyVariant Identifiers: chr6:g.31237827_31237828insGG (hg19) ; chr6:g.31270050_31270051insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270051_31270052insGG , CM000668.2:g.31270051_31270052insGG	GRCh38
NC_000006.11:g.31237828_31237829insGG , CM000668.1:g.31237828_31237829insGG	GRCh37
NC_000006.10:g.31345807_31345808insGG	NCBI36
NG_029422.2:g.7081_7082insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.930_931insCC MANE Select	ENSP00000365402.5:p.Ile311ProfsTer12
ENST00000376228.9:c.930_931insCC	ENSP00000365402.5:p.Ile311ProfsTer12
ENST00000376237.8:c.*517_*518insCC	ENSP00000365412.4:n.*517_*518insCC
ENST00000383329.7:c.930_931insCC	ENSP00000372819.3:p.Ile311ProfsTer12
ENST00000470363.5:n.248_249insCC
ENST00000487245.5:n.1289_1290insCC
NM_002117.5:c.930_931insCC	NP_002108.4:p.Ile311ProfsTer12
NM_002117.6:c.930_931insCC MANE Select	NP_002108.4:p.Ile311ProfsTer12