Canonical Allele Identifier: CA2670675118

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55359262-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359266_55359267del , CM000666.2:g.55359266_55359267del	GRCh38
NC_000004.11:g.56225433_56225434del , CM000666.1:g.56225433_56225434del	GRCh37
NC_000004.10:g.55920190_55920191del	NCBI36
NG_028230.1:g.18046_18047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.222-80_222-79del MANE Select	ENSP00000264228.4:n.222-80_222-79del
ENST00000678717.1:n.119-80_119-79del
ENST00000679351.1:c.222-80_222-79del	ENSP00000505676.1:n.222-80_222-79del
ENST00000679707.1:c.222-80_222-79del	ENSP00000505713.1:n.222-80_222-79del
ENST00000679836.1:c.222-80_222-79del	ENSP00000506601.1:n.222-80_222-79del
ENST00000680700.1:c.222-80_222-79del	ENSP00000504926.1:n.222-80_222-79del
ENST00000264228.8:c.222-80_222-79del	ENSP00000264228.4:n.222-80_222-79del
ENST00000505210.1:c.147-80_147-79del	ENSP00000424714.1:n.147-80_147-79del
ENST00000514398.1:n.230+37_230+38del
NM_024592.4:c.222-80_222-79del	NP_078868.1:n.222-80_222-79del
XM_005265766.2:c.222-80_222-79del	XP_005265823.1:n.222-80_222-79del
XM_005265767.2:c.222-80_222-79del	XP_005265824.1:n.222-80_222-79del
XM_005265766.4:c.222-80_222-79del	XP_005265823.1:n.222-80_222-79del
XM_005265767.3:c.222-80_222-79del	XP_005265824.1:n.222-80_222-79del
XM_017008601.1:c.87-80_87-79del	XP_016864090.1:n.87-80_87-79del
NM_024592.5:c.222-80_222-79del MANE Select	NP_078868.1:n.222-80_222-79del