Canonical Allele Identifier: CA2740098017

Gene: AKR1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138105317_138105319dup , CM000669.2:g.138105317_138105319dup	GRCh38
NC_000007.13:g.137790063_137790065dup , CM000669.1:g.137790063_137790065dup	GRCh37
NC_000007.12:g.137440603_137440605dup	NCBI36
NG_023342.1:g.33886_33888dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005989.4:c.467_469dup MANE Select	NP_005980.1:p.Ala156_Cys157insSer
ENST00000242375.8:c.467_469dup MANE Select	ENSP00000242375.3:p.Ala156_Cys157insSer
NM_001190906.1:c.457-1291_457-1289dup	NP_001177835.1:n.457-1291_457-1289dup
NM_001190906.2:c.457-1291_457-1289dup	NP_001177835.1:n.457-1291_457-1289dup
NM_001190907.1:c.467_469dup	NP_001177836.1:p.Ala156_Cys157insSer
NM_001190907.2:c.467_469dup	NP_001177836.1:p.Ala156_Cys157insSer
NM_005989.3:c.467_469dup	NP_005980.1:p.Ala156_Cys157insSer
ENST00000242375.7:c.467_469dup	ENSP00000242375.3:p.Ala156_Cys157insSer
ENST00000411726.6:c.457-1291_457-1289dup	ENSP00000402374.2:n.457-1291_457-1289dup
ENST00000432161.5:c.467_469dup	ENSP00000389197.1:p.Ala156_Cys157insSer
ENST00000468877.2:n.377_379dup