Canonical Allele Identifier: CA1087450465

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113902322
• gnomAD v3: 6-31269452-GAGTA-G
• gnomAD v4: 6-31269452-GAGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269453_31269456del , CM000668.2:g.31269453_31269456del	GRCh38
NC_000006.11:g.31237230_31237233del , CM000668.1:g.31237230_31237233del	GRCh37
NC_000006.10:g.31345209_31345212del	NCBI36
NG_029422.2:g.7676_7679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1048+37_1048+40del MANE Select	ENSP00000365402.5:n.1048+37_1048+40del
ENST00000376228.9:c.1048+37_1048+40del	ENSP00000365402.5:n.1048+37_1048+40del
ENST00000376237.8:c.*635+37_*635+40del	ENSP00000365412.4:n.*635+37_*635+40del
ENST00000383329.7:c.1066+37_1066+40del	ENSP00000372819.3:n.1066+37_1066+40del
ENST00000466892.5:n.211_214del
ENST00000470363.5:n.806+37_806+40del
ENST00000487245.5:n.1407+37_1407+40del
NM_002117.5:c.1048+37_1048+40del	NP_002108.4:n.1048+37_1048+40del
NM_002117.6:c.1048+37_1048+40del MANE Select	NP_002108.4:n.1048+37_1048+40del