Canonical Allele Identifier: CA1028969315

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1666774605
• gnomAD v3: 2-31568167-AAG-A
• gnomAD v4: 2-31568167-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568170_31568171del , CM000664.2:g.31568170_31568171del	GRCh38
NC_000002.11:g.31793240_31793241del , CM000664.1:g.31793240_31793241del	GRCh37
NC_000002.10:g.31646744_31646745del	NCBI36
NG_008365.1:g.17803_17804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12451_281+12452del MANE Select	ENSP00000477587.1:n.281+12451_281+12452del
ENST00000622030.1:c.281+12451_281+12452del	ENSP00000477587.1:n.281+12451_281+12452del
NM_000348.3:c.281+12451_281+12452del	NP_000339.2:n.281+12451_281+12452del
XM_011533068.1:c.281+12451_281+12452del	XP_011531370.1:n.281+12451_281+12452del
XM_011533070.1:c.27-34403_27-34402del	XP_011531372.1:n.27-34403_27-34402del
XM_011533071.1:c.27-34403_27-34402del	XP_011531373.1:n.27-34403_27-34402del
XM_011533072.1:c.27-34403_27-34402del	XP_011531374.1:n.27-34403_27-34402del
XM_011533072.2:c.27-34403_27-34402del	XP_011531374.1:n.27-34403_27-34402del
NM_000348.4:c.281+12451_281+12452del MANE Select	NP_000339.2:n.281+12451_281+12452del