Canonical Allele Identifier: CA1746468675
Gene: AKR1D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091930_138091931delinsAT , CM000669.2:g.138091930_138091931delinsAT GRCh38
NC_000007.13:g.137776676_137776677delinsAT , CM000669.1:g.137776676_137776677delinsAT GRCh37
NC_000007.12:g.137427216_137427217delinsAT NCBI36
NG_023342.1:g.20499_20500delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.378+46_378+47delinsAT MANE Select ENSP00000242375.3:n.378+46_378+47delinsAT
ENST00000242375.7:c.378+46_378+47delinsAT ENSP00000242375.3:n.378+46_378+47delinsAT
ENST00000411726.6:c.378+46_378+47delinsAT ENSP00000402374.2:n.378+46_378+47delinsAT
ENST00000432161.5:c.378+46_378+47delinsAT ENSP00000389197.1:n.378+46_378+47delinsAT
ENST00000438242.1:c.210+46_210+47delinsAT ENSP00000397042.1:n.210+46_210+47delinsAT
ENST00000468877.2:n.288+46_288+47delinsAT
ENST00000470851.1:n.42+46_42+47delinsAT
NM_001190906.1:c.378+46_378+47delinsAT NP_001177835.1:n.378+46_378+47delinsAT
NM_001190907.1:c.378+46_378+47delinsAT NP_001177836.1:n.378+46_378+47delinsAT
NM_005989.3:c.378+46_378+47delinsAT NP_005980.1:n.378+46_378+47delinsAT
NM_005989.4:c.378+46_378+47delinsAT MANE Select NP_005980.1:n.378+46_378+47delinsAT
NM_001190906.2:c.378+46_378+47delinsAT NP_001177835.1:n.378+46_378+47delinsAT
NM_001190907.2:c.378+46_378+47delinsAT NP_001177836.1:n.378+46_378+47delinsAT