Canonical Allele Identifier: CA2677951252
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113909695
gnomAD v4: 6-31271133-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271134del , CM000668.2:g.31271134del GRCh38
NC_000006.11:g.31238911del , CM000668.1:g.31238911del GRCh37
NC_000006.10:g.31346890del NCBI36
NG_029422.2:g.5998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.558del MANE Select ENSP00000365402.5:p.Thr187ArgfsTer27
ENST00000376228.9:c.558del ENSP00000365402.5:p.Thr187ArgfsTer27
ENST00000376237.8:c.*145del ENSP00000365412.4:n.*145del
ENST00000383329.7:c.558del ENSP00000372819.3:p.Thr187ArgfsTer27
ENST00000415537.1:c.556del
ENST00000484378.1:n.827del
ENST00000487245.5:n.917del
ENST00000495835.1:n.747del
NM_002117.5:c.558del NP_002108.4:p.Thr187ArgfsTer27
NM_002117.6:c.558del MANE Select NP_002108.4:p.Thr187ArgfsTer27
Search 100 bp 5'
Search 100 bp 3'