Canonical Allele Identifier: CA2586968872
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526247_31526248insGTTT , CM000664.2:g.31526247_31526248insGTTT GRCh38
NC_000002.11:g.31751317_31751318insGTTT , CM000664.1:g.31751317_31751318insGTTT GRCh37
NC_000002.10:g.31604821_31604822insGTTT NCBI36
NG_008365.1:g.59724_59725insAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.713_714insAAAC MANE Select ENSP00000477587.1:p.Met238IlefsTer4
ENST00000622030.1:c.713_714insAAAC ENSP00000477587.1:p.Met238IlefsTer4
NM_000348.3:c.713_714insAAAC NP_000339.2:p.Met238IlefsTer4
XM_011533069.1:c.491_492insAAAC XP_011531371.1:p.Met164IlefsTer4
XM_011533070.1:c.458_459insAAAC XP_011531372.1:p.Met153IlefsTer4
XM_011533071.1:c.458_459insAAAC XP_011531373.1:p.Met153IlefsTer4
XM_011533072.1:c.458_459insAAAC XP_011531374.1:p.Met153IlefsTer4
XM_011533069.2:c.491_492insAAAC XP_011531371.1:p.Met164IlefsTer4
XM_011533072.2:c.458_459insAAAC XP_011531374.1:p.Met153IlefsTer4
NM_000348.4:c.713_714insAAAC MANE Select NP_000339.2:p.Met238IlefsTer4