Canonical Allele Identifier: CA2647378656
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119421830-C-CTA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421830_119421831insTA , CM000663.2:g.119421830_119421831insTA GRCh38
NC_000001.10:g.119964453_119964454insTA , CM000663.1:g.119964453_119964454insTA GRCh37
NC_000001.9:g.119765976_119765977insTA NCBI36
NG_013349.1:g.11900_11901insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.329_330insTA MANE Select ENSP00000358424.3:p.Cys111ThrfsTer16
ENST00000369416.3:c.329_330insTA ENSP00000358424.3:p.Cys111ThrfsTer16
ENST00000433745.5:c.329_330insTA ENSP00000388292.1:p.Cys111ThrfsTer16
ENST00000448448.2:n.273_274insTA
ENST00000543831.5:c.329_330insTA ENSP00000445122.1:p.Cys111ThrfsTer16
NM_000198.3:c.329_330insTA NP_000189.1:p.Cys111ThrfsTer16
NM_001166120.1:c.329_330insTA NP_001159592.1:p.Cys111ThrfsTer16
NM_000198.4:c.329_330insTA MANE Select NP_000189.1:p.Cys111ThrfsTer16
NM_001166120.2:c.329_330insTA NP_001159592.1:p.Cys111ThrfsTer16
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