Canonical Allele Identifier: CA2562783387

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567166_31567167del , CM000664.2:g.31567166_31567167del	GRCh38
NC_000002.11:g.31792236_31792237del , CM000664.1:g.31792236_31792237del	GRCh37
NC_000002.10:g.31645740_31645741del	NCBI36
NG_008365.1:g.18807_18808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13455_281+13456del MANE Select	ENSP00000477587.1:n.281+13455_281+13456del
ENST00000622030.1:c.281+13455_281+13456del	ENSP00000477587.1:n.281+13455_281+13456del
NM_000348.3:c.281+13455_281+13456del	NP_000339.2:n.281+13455_281+13456del
XM_011533068.1:c.281+13455_281+13456del	XP_011531370.1:n.281+13455_281+13456del
XM_011533070.1:c.27-33399_27-33398del	XP_011531372.1:n.27-33399_27-33398del
XM_011533071.1:c.27-33399_27-33398del	XP_011531373.1:n.27-33399_27-33398del
XM_011533072.1:c.27-33399_27-33398del	XP_011531374.1:n.27-33399_27-33398del
XM_011533072.2:c.27-33399_27-33398del	XP_011531374.1:n.27-33399_27-33398del
NM_000348.4:c.281+13455_281+13456del MANE Select	NP_000339.2:n.281+13455_281+13456del