Canonical Allele Identifier: CA551572203

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1293252367
• gnomAD v2: 4-56225446-ATCT-A
• gnomAD v3: 4-55359279-ATCT-A
• gnomAD v4: 4-55359279-ATCT-A
• MyVariant Identifiers: chr4:g.56225447_56225449del (hg19) ; chr4:g.55359280_55359282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359282_55359284del , CM000666.2:g.55359282_55359284del	GRCh38
NC_000004.11:g.56225449_56225451del , CM000666.1:g.56225449_56225451del	GRCh37
NC_000004.10:g.55920206_55920208del	NCBI36
NG_028230.1:g.18062_18064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.222-64_222-62del MANE Select	ENSP00000264228.4:n.222-64_222-62del
ENST00000678717.1:n.119-64_119-62del
ENST00000679351.1:c.222-64_222-62del	ENSP00000505676.1:n.222-64_222-62del
ENST00000679707.1:c.222-64_222-62del	ENSP00000505713.1:n.222-64_222-62del
ENST00000679836.1:c.222-64_222-62del	ENSP00000506601.1:n.222-64_222-62del
ENST00000680700.1:c.222-64_222-62del	ENSP00000504926.1:n.222-64_222-62del
ENST00000264228.8:c.222-64_222-62del	ENSP00000264228.4:n.222-64_222-62del
ENST00000505210.1:c.147-64_147-62del	ENSP00000424714.1:n.147-64_147-62del
ENST00000514398.1:n.230+53_230+55del
NM_024592.4:c.222-64_222-62del	NP_078868.1:n.222-64_222-62del
XM_005265766.2:c.222-64_222-62del	XP_005265823.1:n.222-64_222-62del
XM_005265767.2:c.222-64_222-62del	XP_005265824.1:n.222-64_222-62del
XM_005265766.4:c.222-64_222-62del	XP_005265823.1:n.222-64_222-62del
XM_005265767.3:c.222-64_222-62del	XP_005265824.1:n.222-64_222-62del
XM_017008601.1:c.87-64_87-62del	XP_016864090.1:n.87-64_87-62del
NM_024592.5:c.222-64_222-62del MANE Select	NP_078868.1:n.222-64_222-62del