Canonical Allele Identifier: CA2677950720
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270478-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270483del , CM000668.2:g.31270483del GRCh38
NC_000006.11:g.31238260del , CM000668.1:g.31238260del GRCh37
NC_000006.10:g.31346239del NCBI36
NG_029422.2:g.6653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.626del MANE Select ENSP00000365402.5:p.Pro209GlnfsTer5
ENST00000376228.9:c.626del ENSP00000365402.5:p.Pro209GlnfsTer5
ENST00000376237.8:c.*213del ENSP00000365412.4:n.*213del
ENST00000383329.7:c.626del ENSP00000372819.3:p.Pro209GlnfsTer5
ENST00000415537.1:c.624del
ENST00000487245.5:n.985del
ENST00000495835.1:n.815del
NM_002117.5:c.626del NP_002108.4:p.Pro209GlnfsTer5
NM_002117.6:c.626del MANE Select NP_002108.4:p.Pro209GlnfsTer5
Search 100 bp 5'
Search 100 bp 3'