Canonical Allele Identifier: CA2677951234
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271114-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271115_31271116del , CM000668.2:g.31271115_31271116del GRCh38
NC_000006.11:g.31238892_31238893del , CM000668.1:g.31238892_31238893del GRCh37
NC_000006.10:g.31346871_31346872del NCBI36
NG_029422.2:g.6016_6017del

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.576_577del MANE Select ENSP00000365402.5:p.Arg193GlnfsTer27
ENST00000376228.9:c.576_577del ENSP00000365402.5:p.Arg193GlnfsTer27
ENST00000376237.8:c.*163_*164del ENSP00000365412.4:n.*163_*164del
ENST00000383329.7:c.576_577del ENSP00000372819.3:p.Arg193GlnfsTer27
ENST00000415537.1:c.574_575del
ENST00000484378.1:n.845_846del
ENST00000487245.5:n.935_936del
ENST00000495835.1:n.765_766del
NM_002117.5:c.576_577del NP_002108.4:p.Arg193GlnfsTer27
NM_002117.6:c.576_577del MANE Select NP_002108.4:p.Arg193GlnfsTer27
Search 100 bp 5'
Search 100 bp 3'