Canonical Allele Identifier: CA1242214689
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567561_31567562delinsTC , CM000664.2:g.31567561_31567562delinsTC GRCh38
NC_000002.11:g.31792631_31792632delinsTC , CM000664.1:g.31792631_31792632delinsTC GRCh37
NC_000002.10:g.31646135_31646136delinsTC NCBI36
NG_008365.1:g.18410_18411delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13058_281+13059delinsGA MANE Select ENSP00000477587.1:n.281+13058_281+13059delinsGA
ENST00000622030.1:c.281+13058_281+13059delinsGA ENSP00000477587.1:n.281+13058_281+13059delinsGA
NM_000348.3:c.281+13058_281+13059delinsGA NP_000339.2:n.281+13058_281+13059delinsGA
XM_011533068.1:c.281+13058_281+13059delinsGA XP_011531370.1:n.281+13058_281+13059delinsGA
XM_011533070.1:c.27-33796_27-33795delinsGA XP_011531372.1:n.27-33796_27-33795delinsGA
XM_011533071.1:c.27-33796_27-33795delinsGA XP_011531373.1:n.27-33796_27-33795delinsGA
XM_011533072.1:c.27-33796_27-33795delinsGA XP_011531374.1:n.27-33796_27-33795delinsGA
XM_011533072.2:c.27-33796_27-33795delinsGA XP_011531374.1:n.27-33796_27-33795delinsGA
NM_000348.4:c.281+13058_281+13059delinsGA MANE Select NP_000339.2:n.281+13058_281+13059delinsGA