Canonical Allele Identifier: CA2579033692

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091883del , CM000669.2:g.138091883del	GRCh38
NC_000007.13:g.137776629del , CM000669.1:g.137776629del	GRCh37
NC_000007.12:g.137427169del	NCBI36
NG_023342.1:g.20452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.377del MANE Select	ENSP00000242375.3:p.Lys126SerfsTer?
ENST00000242375.7:c.377del	ENSP00000242375.3:p.Lys126SerfsTer?
ENST00000411726.6:c.377del	ENSP00000402374.2:p.Lys126SerfsTer?
ENST00000432161.5:c.377del	ENSP00000389197.1:p.Lys126SerfsTer?
ENST00000438242.1:c.209del	ENSP00000397042.1:p.Lys70SerfsTer?
ENST00000468877.2:n.287del
ENST00000470851.1:n.41del
NM_001190906.1:c.377del	NP_001177835.1:p.Lys126SerfsTer?
NM_001190907.1:c.377del	NP_001177836.1:p.Lys126SerfsTer?
NM_005989.3:c.377del	NP_005980.1:p.Lys126SerfsTer?
NM_005989.4:c.377del MANE Select	NP_005980.1:p.Lys126SerfsTer?
NM_001190906.2:c.377del	NP_001177835.1:p.Lys126SerfsTer?
NM_001190907.2:c.377del	NP_001177836.1:p.Lys126SerfsTer?