Canonical Allele Identifier: CA2749375066

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531456_31531457insCACACCCAACAC , CM000664.2:g.31531456_31531457insCACACCCAACAC	GRCh38
NC_000002.11:g.31756526_31756527insCACACCCAACAC , CM000664.1:g.31756526_31756527insCACACCCAACAC	GRCh37
NC_000002.10:g.31610030_31610031insCACACCCAACAC	NCBI36
NG_008365.1:g.54515_54516insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.461_462insGTGTTGGGTGTG MANE Select	ENSP00000477587.1:p.Ile154delinsMetCysTrpValCys
ENST00000622030.1:c.461_462insGTGTTGGGTGTG	ENSP00000477587.1:p.Ile154delinsMetCysTrpValCys
NM_000348.3:c.461_462insGTGTTGGGTGTG	NP_000339.2:p.Ile154delinsMetCysTrpValCys
XM_011533069.1:c.239_240insGTGTTGGGTGTG	XP_011531371.1:p.Ile80delinsMetCysTrpValCys
XM_011533070.1:c.206_207insGTGTTGGGTGTG	XP_011531372.1:p.Ile69delinsMetCysTrpValCys
XM_011533071.1:c.206_207insGTGTTGGGTGTG	XP_011531373.1:p.Ile69delinsMetCysTrpValCys
XM_011533072.1:c.206_207insGTGTTGGGTGTG	XP_011531374.1:p.Ile69delinsMetCysTrpValCys
XM_011533069.2:c.239_240insGTGTTGGGTGTG	XP_011531371.1:p.Ile80delinsMetCysTrpValCys
XM_011533072.2:c.206_207insGTGTTGGGTGTG	XP_011531374.1:p.Ile69delinsMetCysTrpValCys
NM_000348.4:c.461_462insGTGTTGGGTGTG MANE Select	NP_000339.2:p.Ile154delinsMetCysTrpValCys