Canonical Allele Identifier: CA1107713139

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1794091779
• gnomAD v3: 7-138091932-GAGCCAATAGCTATGTGCATGAAGCTCTGCACCAT-G
• gnomAD v4: 7-138091932-GAGCCAATAGCTATGTGCATGAAGCTCTGCACCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091933_138091966del , CM000669.2:g.138091933_138091966del	GRCh38
NC_000007.13:g.137776679_137776712del , CM000669.1:g.137776679_137776712del	GRCh37
NC_000007.12:g.137427219_137427252del	NCBI36
NG_023342.1:g.20502_20535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+49_378+82del MANE Select	ENSP00000242375.3:n.378+49_378+82del
ENST00000242375.7:c.378+49_378+82del	ENSP00000242375.3:n.378+49_378+82del
ENST00000411726.6:c.378+49_378+82del	ENSP00000402374.2:n.378+49_378+82del
ENST00000432161.5:c.378+49_378+82del	ENSP00000389197.1:n.378+49_378+82del
ENST00000438242.1:c.210+49_210+82del	ENSP00000397042.1:n.210+49_210+82del
ENST00000468877.2:n.288+49_288+82del
ENST00000470851.1:n.42+49_42+82del
NM_001190906.1:c.378+49_378+82del	NP_001177835.1:n.378+49_378+82del
NM_001190907.1:c.378+49_378+82del	NP_001177836.1:n.378+49_378+82del
NM_005989.3:c.378+49_378+82del	NP_005980.1:n.378+49_378+82del
NM_005989.4:c.378+49_378+82del MANE Select	NP_005980.1:n.378+49_378+82del
NM_001190906.2:c.378+49_378+82del	NP_001177835.1:n.378+49_378+82del
NM_001190907.2:c.378+49_378+82del	NP_001177836.1:n.378+49_378+82del