Canonical Allele Identifier: CA2677950706
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270431-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270434del , CM000668.2:g.31270434del GRCh38
NC_000006.11:g.31238211del , CM000668.1:g.31238211del GRCh37
NC_000006.10:g.31346190del NCBI36
NG_029422.2:g.6700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.673del MANE Select ENSP00000365402.5:p.Leu225Ter
ENST00000376228.9:c.673del ENSP00000365402.5:p.Leu225Ter
ENST00000376237.8:c.*260del ENSP00000365412.4:n.*260del
ENST00000383329.7:c.673del ENSP00000372819.3:p.Leu225Ter
ENST00000415537.1:c.664+7del
ENST00000487245.5:n.1032del
ENST00000495835.1:n.862del
NM_002117.5:c.673del NP_002108.4:p.Leu225Ter
NM_002117.6:c.673del MANE Select NP_002108.4:p.Leu225Ter
Search 100 bp 5'
Search 100 bp 3'