Canonical Allele Identifier: CA1242198214

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531181_31531182delinsAG , CM000664.2:g.31531181_31531182delinsAG	GRCh38
NC_000002.11:g.31756251_31756252delinsAG , CM000664.1:g.31756251_31756252delinsAG	GRCh37
NC_000002.10:g.31609755_31609756delinsAG	NCBI36
NG_008365.1:g.54790_54791delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+189_547+190delinsCT MANE Select	ENSP00000477587.1:n.547+189_547+190delinsCT
ENST00000622030.1:c.547+189_547+190delinsCT	ENSP00000477587.1:n.547+189_547+190delinsCT
NM_000348.3:c.547+189_547+190delinsCT	NP_000339.2:n.547+189_547+190delinsCT
XM_011533069.1:c.325+189_325+190delinsCT	XP_011531371.1:n.325+189_325+190delinsCT
XM_011533070.1:c.292+189_292+190delinsCT	XP_011531372.1:n.292+189_292+190delinsCT
XM_011533071.1:c.292+189_292+190delinsCT	XP_011531373.1:n.292+189_292+190delinsCT
XM_011533072.1:c.292+189_292+190delinsCT	XP_011531374.1:n.292+189_292+190delinsCT
XM_011533069.2:c.325+189_325+190delinsCT	XP_011531371.1:n.325+189_325+190delinsCT
XM_011533072.2:c.292+189_292+190delinsCT	XP_011531374.1:n.292+189_292+190delinsCT
NM_000348.4:c.547+189_547+190delinsCT MANE Select	NP_000339.2:n.547+189_547+190delinsCT