Canonical Allele Identifier: CA1242199326
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1665963263

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533661_31533675del , CM000664.2:g.31533661_31533675del GRCh38
NC_000002.11:g.31758731_31758745del , CM000664.1:g.31758731_31758745del GRCh37
NC_000002.10:g.31612235_31612249del NCBI36
NG_008365.1:g.52299_52313del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.375_389del MANE Select ENSP00000477587.1:p.Gln126_Leu130del
ENST00000622030.1:c.375_389del ENSP00000477587.1:p.Gln126_Leu130del
NM_000348.3:c.375_389del NP_000339.2:p.Gln126_Leu130del
XM_011533068.1:c.375_389del XP_011531370.1:p.Gln126_Leu130del
XM_011533069.1:c.153_167del XP_011531371.1:p.Gln52_Leu56del
XM_011533070.1:c.120_134del XP_011531372.1:p.Gln41_Leu45del
XM_011533071.1:c.120_134del XP_011531373.1:p.Gln41_Leu45del
XM_011533072.1:c.120_134del XP_011531374.1:p.Gln41_Leu45del
XM_011533069.2:c.153_167del XP_011531371.1:p.Gln52_Leu56del
XM_011533072.2:c.120_134del XP_011531374.1:p.Gln41_Leu45del
NM_000348.4:c.375_389del MANE Select NP_000339.2:p.Gln126_Leu130del