Canonical Allele Identifier: CA1242220893

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580455_31580516delinsGGCCCCGGCCCCCGCCAGGTGCGCCAGGCAGGCTGGCCTCCGCGTTCCTCACAGCGCCCCAC , CM000664.2:g.31580455_31580516delinsGGCCCCGGCCCCCGCCAGGTGCGCCAGGCAGGCTGGCCTCCGCGTTCCTCACAGCGCCCCAC	GRCh38
NC_000002.11:g.31805525_31805586delinsGGCCCCGGCCCCCGCCAGGTGCGCCAGGCAGGCTGGCCTCCGCGTTCCTCACAGCGCCCCAC , CM000664.1:g.31805525_31805586delinsGGCCCCGGCCCCCGCCAGGTGCGCCAGGCAGGCTGGCCTCCGCGTTCCTCACAGCGCCCCAC	GRCh37
NC_000002.10:g.31659029_31659090delinsGGCCCCGGCCCCCGCCAGGTGCGCCAGGCAGGCTGGCCTCCGCGTTCCTCACAGCGCCCCAC	NCBI36
NG_008365.1:g.5456_5517delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC MANE Select	ENSP00000477587.1:n.281+104_281+165delinsGTGGGGCGCTGTGAGGAACG...
ENST00000622030.1:c.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	ENSP00000477587.1:n.281+104_281+165delinsGTGGGGCGCTGTGAGGAACG...
NM_000348.3:c.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	NP_000339.2:n.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGG...
XM_011533068.1:c.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	XP_011531370.1:n.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGG...
XM_011533070.1:c.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	XP_011531372.1:n.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGC...
XM_011533071.1:c.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	XP_011531373.1:n.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGC...
XM_011533072.1:c.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	XP_011531374.1:n.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGC...
XM_011533072.2:c.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC	XP_011531374.1:n.27-46750_27-46689delinsGTGGGGCGCTGTGAGGAACGC...
NM_000348.4:c.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGGCCAGCCTGCCTGGCGCACCTGGCGGGGGCCGGGGCC MANE Select	NP_000339.2:n.281+104_281+165delinsGTGGGGCGCTGTGAGGAACGCGGAGG...