Canonical Allele Identifier: CA1242220780
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580297_31580298delinsTC , CM000664.2:g.31580297_31580298delinsTC GRCh38
NC_000002.11:g.31805367_31805368delinsTC , CM000664.1:g.31805367_31805368delinsTC GRCh37
NC_000002.10:g.31658871_31658872delinsTC NCBI36
NG_008365.1:g.5674_5675delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+322_281+323delinsGA MANE Select ENSP00000477587.1:n.281+322_281+323delinsGA
ENST00000622030.1:c.281+322_281+323delinsGA ENSP00000477587.1:n.281+322_281+323delinsGA
NM_000348.3:c.281+322_281+323delinsGA NP_000339.2:n.281+322_281+323delinsGA
XM_011533068.1:c.281+322_281+323delinsGA XP_011531370.1:n.281+322_281+323delinsGA
XM_011533070.1:c.27-46532_27-46531delinsGA XP_011531372.1:n.27-46532_27-46531delinsGA
XM_011533071.1:c.27-46532_27-46531delinsGA XP_011531373.1:n.27-46532_27-46531delinsGA
XM_011533072.1:c.27-46532_27-46531delinsGA XP_011531374.1:n.27-46532_27-46531delinsGA
XM_011533072.2:c.27-46532_27-46531delinsGA XP_011531374.1:n.27-46532_27-46531delinsGA
NM_000348.4:c.281+322_281+323delinsGA MANE Select NP_000339.2:n.281+322_281+323delinsGA