Canonical Allele Identifier: CA2670675219

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55359612-AGGATGAGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359613_55359622del , CM000666.2:g.55359613_55359622del	GRCh38
NC_000004.11:g.56225780_56225789del , CM000666.1:g.56225780_56225789del	GRCh37
NC_000004.10:g.55920537_55920546del	NCBI36
NG_028230.1:g.18393_18402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.364+125_364+134del MANE Select	ENSP00000264228.4:n.364+125_364+134del
ENST00000677177.2:c.77+125_77+134del
ENST00000678717.1:n.261+125_261+134del
ENST00000679351.1:c.364+125_364+134del	ENSP00000505676.1:n.364+125_364+134del
ENST00000679707.1:c.364+125_364+134del	ENSP00000505713.1:n.364+125_364+134del
ENST00000679836.1:c.364+125_364+134del	ENSP00000506601.1:n.364+125_364+134del
ENST00000680700.1:c.364+125_364+134del	ENSP00000504926.1:n.364+125_364+134del
ENST00000264228.8:c.364+125_364+134del	ENSP00000264228.4:n.364+125_364+134del
ENST00000505210.1:c.289+125_289+134del	ENSP00000424714.1:n.289+125_289+134del
ENST00000514398.1:n.373+125_373+134del
NM_024592.4:c.364+125_364+134del	NP_078868.1:n.364+125_364+134del
XM_005265766.2:c.364+125_364+134del	XP_005265823.1:n.364+125_364+134del
XM_005265767.2:c.364+125_364+134del	XP_005265824.1:n.364+125_364+134del
XM_005265766.4:c.364+125_364+134del	XP_005265823.1:n.364+125_364+134del
XM_005265767.3:c.364+125_364+134del	XP_005265824.1:n.364+125_364+134del
XM_017008601.1:c.229+125_229+134del	XP_016864090.1:n.229+125_229+134del
NM_024592.5:c.364+125_364+134del MANE Select	NP_078868.1:n.364+125_364+134del