Canonical Allele Identifier: CA2580060913
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2128395
ClinVar RCV Id: RCV003036318
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421844_119422250del , CM000663.2:g.119421844_119422250del GRCh38
NC_000001.10:g.119964467_119964873del , CM000663.1:g.119964467_119964873del GRCh37
NC_000001.9:g.119765990_119766396del NCBI36
NG_013349.1:g.11914_12320del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.343_749del MANE Select ENSP00000358424.3:p.Val116IlefsTer7
ENST00000369416.3:c.343_749del ENSP00000358424.3:p.Val116IlefsTer7
ENST00000543831.5:c.343_749del ENSP00000445122.1:p.Val116IlefsTer7
NM_000198.3:c.343_749del NP_000189.1:p.Val116IlefsTer7
NM_001166120.1:c.343_749del NP_001159592.1:p.Val116IlefsTer7
NM_000198.4:c.343_749del MANE Select NP_000189.1:p.Val116IlefsTer7
NM_001166120.2:c.343_749del NP_001159592.1:p.Val116IlefsTer7
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