Canonical Allele Identifier: CA2677950666
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270347-TCGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270348_31270350del , CM000668.2:g.31270348_31270350del GRCh38
NC_000006.11:g.31238125_31238127del , CM000668.1:g.31238125_31238127del GRCh37
NC_000006.10:g.31346104_31346106del NCBI36
NG_029422.2:g.6782_6784del

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.755_757del MANE Select ENSP00000365402.5:p.Thr252_Glu253delinsLys
ENST00000376228.9:c.755_757del ENSP00000365402.5:p.Thr252_Glu253delinsLys
ENST00000376237.8:c.*342_*344del ENSP00000365412.4:n.*342_*344del
ENST00000383329.7:c.755_757del ENSP00000372819.3:p.Thr252_Glu253delinsLys
ENST00000415537.1:c.665-19_665-17del
ENST00000470363.5:n.73_75del
ENST00000487245.5:n.1114_1116del
ENST00000495835.1:n.944_946del
NM_002117.5:c.755_757del NP_002108.4:p.Thr252_Glu253delinsLys
NM_002117.6:c.755_757del MANE Select NP_002108.4:p.Thr252_Glu253delinsLys
Search 100 bp 5'
Search 100 bp 3'