Canonical Allele Identifier: CA2579033691

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091837_138091840del , CM000669.2:g.138091837_138091840del	GRCh38
NC_000007.13:g.137776583_137776586del , CM000669.1:g.137776583_137776586del	GRCh37
NC_000007.12:g.137427123_137427126del	NCBI36
NG_023342.1:g.20406_20409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000242375.8:c.331_334del MANE Select	ENSP00000242375.3:p.Leu111IlefsTer?
ENST00000242375.7:c.331_334del	ENSP00000242375.3:p.Leu111IlefsTer?
ENST00000411726.6:c.331_334del	ENSP00000402374.2:p.Leu111IlefsTer?
ENST00000432161.5:c.331_334del	ENSP00000389197.1:p.Leu111IlefsTer?
ENST00000438242.1:c.163_166del	ENSP00000397042.1:p.Leu55IlefsTer?
ENST00000468877.2:n.241_244del
NM_001190906.1:c.331_334del	NP_001177835.1:p.Leu111IlefsTer?
NM_001190907.1:c.331_334del	NP_001177836.1:p.Leu111IlefsTer?
NM_005989.3:c.331_334del	NP_005980.1:p.Leu111IlefsTer?
NM_005989.4:c.331_334del MANE Select	NP_005980.1:p.Leu111IlefsTer?
NM_001190906.2:c.331_334del	NP_001177835.1:p.Leu111IlefsTer?
NM_001190907.2:c.331_334del	NP_001177836.1:p.Leu111IlefsTer?