Canonical Allele Identifier: CA2685107470

Gene: AKR1D1

Linked Data

• gnomAD v4: 7-138091869-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091870_138091872del , CM000669.2:g.138091870_138091872del	GRCh38
NC_000007.13:g.137776616_137776618del , CM000669.1:g.137776616_137776618del	GRCh37
NC_000007.12:g.137427156_137427158del	NCBI36
NG_023342.1:g.20439_20441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.364_366del MANE Select	ENSP00000242375.3:p.Pro122del
ENST00000242375.7:c.364_366del	ENSP00000242375.3:p.Pro122del
ENST00000411726.6:c.364_366del	ENSP00000402374.2:p.Pro122del
ENST00000432161.5:c.364_366del	ENSP00000389197.1:p.Pro122del
ENST00000438242.1:c.196_198del	ENSP00000397042.1:p.Pro66del
ENST00000468877.2:n.274_276del
ENST00000470851.1:n.28_30del
NM_001190906.1:c.364_366del	NP_001177835.1:p.Pro122del
NM_001190907.1:c.364_366del	NP_001177836.1:p.Pro122del
NM_005989.3:c.364_366del	NP_005980.1:p.Pro122del
NM_005989.4:c.364_366del MANE Select	NP_005980.1:p.Pro122del
NM_001190906.2:c.364_366del	NP_001177835.1:p.Pro122del
NM_001190907.2:c.364_366del	NP_001177836.1:p.Pro122del