Canonical Allele Identifier: CA1746468642

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1794087115
• gnomAD v4: 7-138091851-T-TCTTTACATCATTGAAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091853_138091870dup , CM000669.2:g.138091853_138091870dup	GRCh38
NC_000007.13:g.137776599_137776616dup , CM000669.1:g.137776599_137776616dup	GRCh37
NC_000007.12:g.137427139_137427156dup	NCBI36
NG_023342.1:g.20422_20439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.347_364dup MANE Select	ENSP00000242375.3:p.Val121_Pro122insLeuTyrIleIleGluVal
ENST00000242375.7:c.347_364dup	ENSP00000242375.3:p.Val121_Pro122insLeuTyrIleIleGluVal
ENST00000411726.6:c.347_364dup	ENSP00000402374.2:p.Val121_Pro122insLeuTyrIleIleGluVal
ENST00000432161.5:c.347_364dup	ENSP00000389197.1:p.Val121_Pro122insLeuTyrIleIleGluVal
ENST00000438242.1:c.179_196dup	ENSP00000397042.1:p.Val65_Pro66insLeuTyrIleIleGluVal
ENST00000468877.2:n.257_274dup
ENST00000470851.1:n.11_28dup
NM_001190906.1:c.347_364dup	NP_001177835.1:p.Val121_Pro122insLeuTyrIleIleGluVal
NM_001190907.1:c.347_364dup	NP_001177836.1:p.Val121_Pro122insLeuTyrIleIleGluVal
NM_005989.3:c.347_364dup	NP_005980.1:p.Val121_Pro122insLeuTyrIleIleGluVal
NM_005989.4:c.347_364dup MANE Select	NP_005980.1:p.Val121_Pro122insLeuTyrIleIleGluVal
NM_001190906.2:c.347_364dup	NP_001177835.1:p.Val121_Pro122insLeuTyrIleIleGluVal
NM_001190907.2:c.347_364dup	NP_001177836.1:p.Val121_Pro122insLeuTyrIleIleGluVal