Canonical Allele Identifier: CA2761730676
Gene: SRD5A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55359658_55359659del , CM000666.2:g.55359658_55359659del GRCh38
NC_000004.11:g.56225825_56225826del , CM000666.1:g.56225825_56225826del GRCh37
NC_000004.10:g.55920582_55920583del NCBI36
NG_028230.1:g.18438_18439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264228.9:c.364+170_364+171del MANE Select ENSP00000264228.4:n.364+170_364+171del
ENST00000677177.2:c.77+170_77+171del
ENST00000678717.1:n.261+170_261+171del
ENST00000679351.1:c.364+170_364+171del ENSP00000505676.1:n.364+170_364+171del
ENST00000679707.1:c.364+170_364+171del ENSP00000505713.1:n.364+170_364+171del
ENST00000679836.1:c.364+170_364+171del ENSP00000506601.1:n.364+170_364+171del
ENST00000680700.1:c.364+170_364+171del ENSP00000504926.1:n.364+170_364+171del
ENST00000264228.8:c.364+170_364+171del ENSP00000264228.4:n.364+170_364+171del
ENST00000505210.1:c.289+170_289+171del ENSP00000424714.1:n.289+170_289+171del
ENST00000514398.1:n.373+170_373+171del
NM_024592.4:c.364+170_364+171del NP_078868.1:n.364+170_364+171del
XM_005265766.2:c.364+170_364+171del XP_005265823.1:n.364+170_364+171del
XM_005265767.2:c.364+170_364+171del XP_005265824.1:n.364+170_364+171del
XM_005265766.4:c.364+170_364+171del XP_005265823.1:n.364+170_364+171del
XM_005265767.3:c.364+170_364+171del XP_005265824.1:n.364+170_364+171del
XM_017008601.1:c.229+170_229+171del XP_016864090.1:n.229+170_229+171del
NM_024592.5:c.364+170_364+171del MANE Select NP_078868.1:n.364+170_364+171del