Canonical Allele Identifier: CA2586969030

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531468del , CM000664.2:g.31531468del	GRCh38
NC_000002.11:g.31756538del , CM000664.1:g.31756538del	GRCh37
NC_000002.10:g.31610042del	NCBI36
NG_008365.1:g.54504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.450del MANE Select	ENSP00000477587.1:p.Phe151SerfsTer9
ENST00000622030.1:c.450del	ENSP00000477587.1:p.Phe151SerfsTer9
NM_000348.3:c.450del	NP_000339.2:p.Phe151SerfsTer9
XM_011533069.1:c.228del	XP_011531371.1:p.Phe77SerfsTer9
XM_011533070.1:c.195del	XP_011531372.1:p.Phe66SerfsTer9
XM_011533071.1:c.195del	XP_011531373.1:p.Phe66SerfsTer9
XM_011533072.1:c.195del	XP_011531374.1:p.Phe66SerfsTer9
XM_011533069.2:c.228del	XP_011531371.1:p.Phe77SerfsTer9
XM_011533072.2:c.195del	XP_011531374.1:p.Phe66SerfsTer9
NM_000348.4:c.450del MANE Select	NP_000339.2:p.Phe151SerfsTer9