Canonical Allele Identifier: CA2761730686
Gene: SRD5A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359677_55359695del , CM000666.2:g.55359677_55359695del GRCh38
NC_000004.11:g.56225844_56225862del , CM000666.1:g.56225844_56225862del GRCh37
NC_000004.10:g.55920601_55920619del NCBI36
NG_028230.1:g.18457_18475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.364+189_364+207del MANE Select ENSP00000264228.4:n.364+189_364+207del
ENST00000677177.2:c.77+189_77+207del
ENST00000678717.1:n.261+189_261+207del
ENST00000679351.1:c.364+189_364+207del ENSP00000505676.1:n.364+189_364+207del
ENST00000679707.1:c.364+189_364+207del ENSP00000505713.1:n.364+189_364+207del
ENST00000679836.1:c.364+189_364+207del ENSP00000506601.1:n.364+189_364+207del
ENST00000680700.1:c.364+189_364+207del ENSP00000504926.1:n.364+189_364+207del
ENST00000264228.8:c.364+189_364+207del ENSP00000264228.4:n.364+189_364+207del
ENST00000505210.1:c.289+189_289+207del ENSP00000424714.1:n.289+189_289+207del
ENST00000514398.1:n.373+189_373+207del
NM_024592.4:c.364+189_364+207del NP_078868.1:n.364+189_364+207del
XM_005265766.2:c.364+189_364+207del XP_005265823.1:n.364+189_364+207del
XM_005265767.2:c.364+189_364+207del XP_005265824.1:n.364+189_364+207del
XM_005265766.4:c.364+189_364+207del XP_005265823.1:n.364+189_364+207del
XM_005265767.3:c.364+189_364+207del XP_005265824.1:n.364+189_364+207del
XM_017008601.1:c.229+189_229+207del XP_016864090.1:n.229+189_229+207del
NM_024592.5:c.364+189_364+207del MANE Select NP_078868.1:n.364+189_364+207del