Canonical Allele Identifier: CA2761730610
Gene: SRD5A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359619_55359621del , CM000666.2:g.55359619_55359621del GRCh38
NC_000004.11:g.56225786_56225788del , CM000666.1:g.56225786_56225788del GRCh37
NC_000004.10:g.55920543_55920545del NCBI36
NG_028230.1:g.18399_18401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.364+131_364+133del MANE Select ENSP00000264228.4:n.364+131_364+133del
ENST00000677177.2:c.77+131_77+133del
ENST00000678717.1:n.261+131_261+133del
ENST00000679351.1:c.364+131_364+133del ENSP00000505676.1:n.364+131_364+133del
ENST00000679707.1:c.364+131_364+133del ENSP00000505713.1:n.364+131_364+133del
ENST00000679836.1:c.364+131_364+133del ENSP00000506601.1:n.364+131_364+133del
ENST00000680700.1:c.364+131_364+133del ENSP00000504926.1:n.364+131_364+133del
ENST00000264228.8:c.364+131_364+133del ENSP00000264228.4:n.364+131_364+133del
ENST00000505210.1:c.289+131_289+133del ENSP00000424714.1:n.289+131_289+133del
ENST00000514398.1:n.373+131_373+133del
NM_024592.4:c.364+131_364+133del NP_078868.1:n.364+131_364+133del
XM_005265766.2:c.364+131_364+133del XP_005265823.1:n.364+131_364+133del
XM_005265767.2:c.364+131_364+133del XP_005265824.1:n.364+131_364+133del
XM_005265766.4:c.364+131_364+133del XP_005265823.1:n.364+131_364+133del
XM_005265767.3:c.364+131_364+133del XP_005265824.1:n.364+131_364+133del
XM_017008601.1:c.229+131_229+133del XP_016864090.1:n.229+131_229+133del
NM_024592.5:c.364+131_364+133del MANE Select NP_078868.1:n.364+131_364+133del