Canonical Allele Identifier: CA566688983

Gene: HLA-C

Linked Data

• dbSNP Id: rs1562025667
• gnomAD v2: 6-31238961-T-TG
• MyVariant Identifiers: chr6:g.31238961_31238962insG (hg19) ; chr6:g.31271184_31271185insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271185dup , CM000668.2:g.31271185dup	GRCh38
NC_000006.11:g.31238962dup , CM000668.1:g.31238962dup	GRCh37
NC_000006.10:g.31346941dup	NCBI36
NG_029422.2:g.5947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.507dup MANE Select	ENSP00000365402.5:p.Lys170GlnfsTer?
ENST00000376228.9:c.507dup	ENSP00000365402.5:p.Lys170GlnfsTer?
ENST00000376237.8:c.*94dup	ENSP00000365412.4:n.*94dup
ENST00000383329.7:c.507dup	ENSP00000372819.3:p.Lys170GlnfsTer?
ENST00000415537.1:c.505dup
ENST00000484378.1:n.776dup
ENST00000487245.5:n.866dup
ENST00000495835.1:n.696dup
NM_002117.5:c.507dup	NP_002108.4:p.Lys170GlnfsTer?
NM_002117.6:c.507dup MANE Select	NP_002108.4:p.Lys170GlnfsTer?