Canonical Allele Identifier: CA1028969005
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567470_31567473del , CM000664.2:g.31567470_31567473del GRCh38
NC_000002.11:g.31792540_31792543del , CM000664.1:g.31792540_31792543del GRCh37
NC_000002.10:g.31646044_31646047del NCBI36
NG_008365.1:g.18512_18515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13160_281+13163del MANE Select ENSP00000477587.1:n.281+13160_281+13163del
ENST00000622030.1:c.281+13160_281+13163del ENSP00000477587.1:n.281+13160_281+13163del
NM_000348.3:c.281+13160_281+13163del NP_000339.2:n.281+13160_281+13163del
XM_011533068.1:c.281+13160_281+13163del XP_011531370.1:n.281+13160_281+13163del
XM_011533070.1:c.27-33694_27-33691del XP_011531372.1:n.27-33694_27-33691del
XM_011533071.1:c.27-33694_27-33691del XP_011531373.1:n.27-33694_27-33691del
XM_011533072.1:c.27-33694_27-33691del XP_011531374.1:n.27-33694_27-33691del
XM_011533072.2:c.27-33694_27-33691del XP_011531374.1:n.27-33694_27-33691del
NM_000348.4:c.281+13160_281+13163del MANE Select NP_000339.2:n.281+13160_281+13163del