Canonical Allele Identifier: CA2658512688

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31580605-A-ATTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580605_31580606insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG , CM000664.2:g.31580605_31580606insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG	GRCh38
NC_000002.11:g.31805675_31805676insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG , CM000664.1:g.31805675_31805676insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG	GRCh37
NC_000002.10:g.31659179_31659180insTTAGGGCAGTGCGCTGCACTGGGCGCCCGCAG	NCBI36
NG_008365.1:g.5366_5367insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA MANE Select	ENSP00000477587.1:n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACT...
ENST00000622030.1:c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	ENSP00000477587.1:n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACT...
NM_000348.3:c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	NP_000339.2:n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTA...
XM_011533068.1:c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	XP_011531370.1:n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCC...
XM_011533070.1:c.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	XP_011531372.1:n.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCAC...
XM_011533071.1:c.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	XP_011531373.1:n.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCAC...
XM_011533072.1:c.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	XP_011531374.1:n.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCAC...
XM_011533072.2:c.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA	XP_011531374.1:n.27-46840_27-46839insCTGCGGGCGCCCAGTGCAGCGCAC...
NM_000348.4:c.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTAA MANE Select	NP_000339.2:n.281+14_281+15insCTGCGGGCGCCCAGTGCAGCGCACTGCCCTA...