Canonical Allele Identifier: CA2670663239

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55346455-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346458del , CM000666.2:g.55346458del	GRCh38
NC_000004.11:g.56212625del , CM000666.1:g.56212625del	GRCh37
NC_000004.10:g.55907382del	NCBI36
NG_028230.1:g.5238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.122del MANE Select	ENSP00000264228.4:p.Pro41ArgfsTer9
ENST00000679351.1:c.122del	ENSP00000505676.1:p.Pro41ArgfsTer9
ENST00000679707.1:c.122del	ENSP00000505713.1:p.Pro41ArgfsTer9
ENST00000679836.1:c.122del	ENSP00000506601.1:p.Pro41ArgfsTer9
ENST00000680700.1:c.122del	ENSP00000504926.1:p.Pro41ArgfsTer9
ENST00000264228.8:c.122del	ENSP00000264228.4:p.Pro41ArgfsTer9
ENST00000505210.1:c.47del	ENSP00000424714.1:p.Pro16ArgfsTer9
NM_024592.4:c.122del	NP_078868.1:p.Pro41ArgfsTer9
XM_005265766.2:c.122del	XP_005265823.1:p.Pro41ArgfsTer9
XM_005265767.2:c.122del	XP_005265824.1:p.Pro41ArgfsTer9
XM_005265766.4:c.122del	XP_005265823.1:p.Pro41ArgfsTer9
XM_005265767.3:c.122del	XP_005265824.1:p.Pro41ArgfsTer9
NM_024592.5:c.122del MANE Select	NP_078868.1:p.Pro41ArgfsTer9