Canonical Allele Identifier: CA2685107424

Gene: AKR1D1

Linked Data

• dbSNP Id: rs2117434501
• gnomAD v4: 7-138091689-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091693del , CM000669.2:g.138091693del	GRCh38
NC_000007.13:g.137776439del , CM000669.1:g.137776439del	GRCh37
NC_000007.12:g.137426979del	NCBI36
NG_023342.1:g.20262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.262-75del MANE Select	ENSP00000242375.3:n.262-75del
ENST00000242375.7:c.262-75del	ENSP00000242375.3:n.262-75del
ENST00000411726.6:c.262-75del	ENSP00000402374.2:n.262-75del
ENST00000432161.5:c.262-75del	ENSP00000389197.1:n.262-75del
ENST00000438242.1:c.94-75del	ENSP00000397042.1:n.94-75del
ENST00000468877.2:n.222-125del
NM_001190906.1:c.262-75del	NP_001177835.1:n.262-75del
NM_001190907.1:c.262-75del	NP_001177836.1:n.262-75del
NM_005989.3:c.262-75del	NP_005980.1:n.262-75del
NM_005989.4:c.262-75del MANE Select	NP_005980.1:n.262-75del
NM_001190906.2:c.262-75del	NP_001177835.1:n.262-75del
NM_001190907.2:c.262-75del	NP_001177836.1:n.262-75del