Canonical Allele Identifier: CA2586969031
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533627_31533629delinsGAAT , CM000664.2:g.31533627_31533629delinsGAAT GRCh38
NC_000002.11:g.31758697_31758699delinsGAAT , CM000664.1:g.31758697_31758699delinsGAAT GRCh37
NC_000002.10:g.31612201_31612203delinsGAAT NCBI36
NG_008365.1:g.52343_52345delinsATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.419_421delinsATTC MANE Select ENSP00000477587.1:p.Trp140TyrfsTer8
ENST00000622030.1:c.419_421delinsATTC ENSP00000477587.1:p.Trp140TyrfsTer8
NM_000348.3:c.419_421delinsATTC NP_000339.2:p.Trp140TyrfsTer8
XM_011533068.1:c.419_421delinsATTC XP_011531370.1:p.Trp140TyrfsTer8
XM_011533069.1:c.197_199delinsATTC XP_011531371.1:p.Trp66TyrfsTer8
XM_011533070.1:c.164_166delinsATTC XP_011531372.1:p.Trp55TyrfsTer8
XM_011533071.1:c.164_166delinsATTC XP_011531373.1:p.Trp55TyrfsTer8
XM_011533072.1:c.164_166delinsATTC XP_011531374.1:p.Trp55TyrfsTer8
XM_011533069.2:c.197_199delinsATTC XP_011531371.1:p.Trp66TyrfsTer8
XM_011533072.2:c.164_166delinsATTC XP_011531374.1:p.Trp55TyrfsTer8
NM_000348.4:c.419_421delinsATTC MANE Select NP_000339.2:p.Trp140TyrfsTer8