Canonical Allele Identifier: CA3710697

Gene: HLA-C

Linked Data

• dbSNP Id: rs1554182644
• ExAC: 6:31238928 T / TC
• gnomAD v2: 6-31238928-T-TC
• gnomAD v3: 6-31271151-T-TC
• gnomAD v4: 6-31271151-T-TC
• MyVariant Identifiers: chr6:g.31238930delinsCA (hg19) ; chr6:g.31238928_31238929insC (hg19) ; chr6:g.31271153delinsCA (hg38) ; chr6:g.31271151_31271152insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271152dup , CM000668.2:g.31271152dup	GRCh38
NC_000006.11:g.31238929dup , CM000668.1:g.31238929dup	GRCh37
NC_000006.10:g.31346908dup	NCBI36
NG_029422.2:g.5980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.540dup MANE Select	ENSP00000365402.5:p.Arg181GlufsTer?
ENST00000376228.9:c.540dup	ENSP00000365402.5:p.Arg181GlufsTer?
ENST00000376237.8:c.*127dup	ENSP00000365412.4:n.*127dup
ENST00000383329.7:c.540dup	ENSP00000372819.3:p.Arg181GlufsTer?
ENST00000415537.1:c.538dup
ENST00000484378.1:n.809dup
ENST00000487245.5:n.899dup
ENST00000495835.1:n.729dup
NM_002117.5:c.540dup	NP_002108.4:p.Arg181GlufsTer?
NM_002117.6:c.540dup MANE Select	NP_002108.4:p.Arg181GlufsTer?