Canonical Allele Identifier: CA2677951212
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271079-GCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271080_31271081del , CM000668.2:g.31271080_31271081del GRCh38
NC_000006.11:g.31238857_31238858del , CM000668.1:g.31238857_31238858del GRCh37
NC_000006.10:g.31346836_31346837del NCBI36
NG_029422.2:g.6051_6052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.611_612del MANE Select ENSP00000365402.5:p.Gln204ProfsTer16
ENST00000376228.9:c.611_612del ENSP00000365402.5:p.Gln204ProfsTer16
ENST00000376237.8:c.*198_*199del ENSP00000365412.4:n.*198_*199del
ENST00000383329.7:c.611_612del ENSP00000372819.3:p.Gln204ProfsTer16
ENST00000415537.1:c.609_610del
ENST00000487245.5:n.970_971del
ENST00000495835.1:n.800_801del
NM_002117.5:c.611_612del NP_002108.4:p.Gln204ProfsTer16
NM_002117.6:c.611_612del MANE Select NP_002108.4:p.Gln204ProfsTer16
Search 100 bp 5'
Search 100 bp 3'