Canonical Allele Identifier: CA1619079938
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1761226520
gnomAD v4: 6-31270439-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270440del , CM000668.2:g.31270440del GRCh38
NC_000006.11:g.31238217del , CM000668.1:g.31238217del GRCh37
NC_000006.10:g.31346196del NCBI36
NG_029422.2:g.6692del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.665del MANE Select ENSP00000365402.5:p.Glu222GlyfsTer4
ENST00000376228.9:c.665del ENSP00000365402.5:p.Glu222GlyfsTer4
ENST00000376237.8:c.*252del ENSP00000365412.4:n.*252del
ENST00000383329.7:c.665del ENSP00000372819.3:p.Glu222GlyfsTer4
ENST00000415537.1:c.663del
ENST00000487245.5:n.1024del
ENST00000495835.1:n.854del
NM_002117.5:c.665del NP_002108.4:p.Glu222GlyfsTer4
NM_002117.6:c.665del MANE Select NP_002108.4:p.Glu222GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'