Canonical Allele Identifier: CA578192071

Gene: AKR1D1

Linked Data

• dbSNP Id: rs1260527706
• gnomAD v2: 7-137776672-AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC-A
• gnomAD v3: 7-138091926-AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC-A
• gnomAD v4: 7-138091926-AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC-A
• MyVariant Identifiers: chr7:g.137776673_137776707del (hg19) ; chr7:g.138091927_138091961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138092028_138092062del , CM000669.2:g.138092028_138092062del	GRCh38
NC_000007.13:g.137776774_137776808del , CM000669.1:g.137776774_137776808del	GRCh37
NC_000007.12:g.137427314_137427348del	NCBI36
NG_023342.1:g.20597_20631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.378+144_378+178del MANE Select	ENSP00000242375.3:n.378+144_378+178del
ENST00000242375.7:c.378+144_378+178del	ENSP00000242375.3:n.378+144_378+178del
ENST00000411726.6:c.378+144_378+178del	ENSP00000402374.2:n.378+144_378+178del
ENST00000432161.5:c.378+144_378+178del	ENSP00000389197.1:n.378+144_378+178del
ENST00000438242.1:c.210+144_210+178del	ENSP00000397042.1:n.210+144_210+178del
ENST00000468877.2:n.288+144_288+178del
ENST00000470851.1:n.42+144_42+178del
NM_001190906.1:c.378+144_378+178del	NP_001177835.1:n.378+144_378+178del
NM_001190907.1:c.378+144_378+178del	NP_001177836.1:n.378+144_378+178del
NM_005989.3:c.378+144_378+178del	NP_005980.1:n.378+144_378+178del
NM_005989.4:c.378+144_378+178del MANE Select	NP_005980.1:n.378+144_378+178del
NM_001190906.2:c.378+144_378+178del	NP_001177835.1:n.378+144_378+178del
NM_001190907.2:c.378+144_378+178del	NP_001177836.1:n.378+144_378+178del