Canonical Allele Identifier: CA1028969044

Gene: SRD5A2

Linked Data

• gnomAD v3: 2-31567467-T-TATATAC
• gnomAD v4: 2-31567467-T-TATATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567472_31567473insCATATA , CM000664.2:g.31567472_31567473insCATATA	GRCh38
NC_000002.11:g.31792542_31792543insCATATA , CM000664.1:g.31792542_31792543insCATATA	GRCh37
NC_000002.10:g.31646046_31646047insCATATA	NCBI36
NG_008365.1:g.18504_18505insGTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13152_281+13153insGTATAT MANE Select	ENSP00000477587.1:n.281+13152_281+13153insGTATAT
ENST00000622030.1:c.281+13152_281+13153insGTATAT	ENSP00000477587.1:n.281+13152_281+13153insGTATAT
NM_000348.3:c.281+13152_281+13153insGTATAT	NP_000339.2:n.281+13152_281+13153insGTATAT
XM_011533068.1:c.281+13152_281+13153insGTATAT	XP_011531370.1:n.281+13152_281+13153insGTATAT
XM_011533070.1:c.27-33702_27-33701insGTATAT	XP_011531372.1:n.27-33702_27-33701insGTATAT
XM_011533071.1:c.27-33702_27-33701insGTATAT	XP_011531373.1:n.27-33702_27-33701insGTATAT
XM_011533072.1:c.27-33702_27-33701insGTATAT	XP_011531374.1:n.27-33702_27-33701insGTATAT
XM_011533072.2:c.27-33702_27-33701insGTATAT	XP_011531374.1:n.27-33702_27-33701insGTATAT
NM_000348.4:c.281+13152_281+13153insGTATAT MANE Select	NP_000339.2:n.281+13152_281+13153insGTATAT