Canonical Allele Identifier: CA566336375

Gene: HLA-C

Linked Data

• dbSNP Id: rs1200156176
• gnomAD v2: 6-31237128-GAGAGACTCATC-G
• MyVariant Identifiers: chr6:g.31237129_31237139del (hg19) ; chr6:g.31269352_31269362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269356_31269366del , CM000668.2:g.31269356_31269366del	GRCh38
NC_000006.11:g.31237133_31237143del , CM000668.1:g.31237133_31237143del	GRCh37
NC_000006.10:g.31345112_31345122del	NCBI36
NG_029422.2:g.7770_7780del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.1072_1082del MANE Select	ENSP00000365402.5:p.Asp358HisfsTer4
ENST00000376228.9:c.1072_1082del	ENSP00000365402.5:p.Asp358HisfsTer4
ENST00000376237.8:c.*659_*669del	ENSP00000365412.4:n.*659_*669del
ENST00000383329.7:c.1090_1100del	ENSP00000372819.3:p.Asp364HisfsTer4
ENST00000466892.5:n.305_315del
ENST00000470363.5:n.830_840del
ENST00000487245.5:n.1431_1441del
NM_002117.5:c.1072_1082del	NP_002108.4:p.Asp358HisfsTer4
NM_002117.6:c.1072_1082del MANE Select	NP_002108.4:p.Asp358HisfsTer4