Canonical Allele Identifier: CA1242220786
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1667044994

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580305_31580306del , CM000664.2:g.31580305_31580306del GRCh38
NC_000002.11:g.31805375_31805376del , CM000664.1:g.31805375_31805376del GRCh37
NC_000002.10:g.31658879_31658880del NCBI36
NG_008365.1:g.5666_5667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+314_281+315del MANE Select ENSP00000477587.1:n.281+314_281+315del
ENST00000622030.1:c.281+314_281+315del ENSP00000477587.1:n.281+314_281+315del
NM_000348.3:c.281+314_281+315del NP_000339.2:n.281+314_281+315del
XM_011533068.1:c.281+314_281+315del XP_011531370.1:n.281+314_281+315del
XM_011533070.1:c.27-46540_27-46539del XP_011531372.1:n.27-46540_27-46539del
XM_011533071.1:c.27-46540_27-46539del XP_011531373.1:n.27-46540_27-46539del
XM_011533072.1:c.27-46540_27-46539del XP_011531374.1:n.27-46540_27-46539del
XM_011533072.2:c.27-46540_27-46539del XP_011531374.1:n.27-46540_27-46539del
NM_000348.4:c.281+314_281+315del MANE Select NP_000339.2:n.281+314_281+315del