Canonical Allele Identifier: CA1242198342
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531461_31531462delinsAT , CM000664.2:g.31531461_31531462delinsAT GRCh38
NC_000002.11:g.31756531_31756532delinsAT , CM000664.1:g.31756531_31756532delinsAT GRCh37
NC_000002.10:g.31610035_31610036delinsAT NCBI36
NG_008365.1:g.54510_54511delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.456_457delinsAT MANE Select ENSP00000477587.1:p.Leu152=
ENST00000622030.1:c.456_457delinsAT ENSP00000477587.1:p.Leu152=
NM_000348.3:c.456_457delinsAT NP_000339.2:p.Leu152=
XM_011533069.1:c.234_235delinsAT XP_011531371.1:p.Leu78=
XM_011533070.1:c.201_202delinsAT XP_011531372.1:p.Leu67=
XM_011533071.1:c.201_202delinsAT XP_011531373.1:p.Leu67=
XM_011533072.1:c.201_202delinsAT XP_011531374.1:p.Leu67=
XM_011533069.2:c.234_235delinsAT XP_011531371.1:p.Leu78=
XM_011533072.2:c.201_202delinsAT XP_011531374.1:p.Leu67=
NM_000348.4:c.456_457delinsAT MANE Select NP_000339.2:p.Leu152=