Canonical Allele Identifier: CA2677949786

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113902557
• gnomAD v4: 6-31269493-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269495_31269496del , CM000668.2:g.31269495_31269496del	GRCh38
NC_000006.11:g.31237272_31237273del , CM000668.1:g.31237272_31237273del	GRCh37
NC_000006.10:g.31345251_31345252del	NCBI36
NG_029422.2:g.7637_7638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1046_1047del MANE Select	ENSP00000365402.5:p.Ala349ValfsTer9
ENST00000376228.9:c.1046_1047del	ENSP00000365402.5:p.Ala349ValfsTer9
ENST00000376237.8:c.*633_*634del	ENSP00000365412.4:n.*633_*634del
ENST00000383329.7:c.1064_1065del	ENSP00000372819.3:p.Ala355ValfsTer9
ENST00000466892.5:n.172_173del
ENST00000470363.5:n.804_805del
ENST00000487245.5:n.1405_1406del
NM_002117.5:c.1046_1047del	NP_002108.4:p.Ala349ValfsTer9
NM_002117.6:c.1046_1047del MANE Select	NP_002108.4:p.Ala349ValfsTer9