Canonical Allele Identifier: CA1107712953

Gene: AKR1D1

Linked Data

• gnomAD v3: 7-138091665-C-CAAAAAAAAA
• gnomAD v4: 7-138091665-C-CAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091669_138091677dup , CM000669.2:g.138091669_138091677dup	GRCh38
NC_000007.13:g.137776415_137776423dup , CM000669.1:g.137776415_137776423dup	GRCh37
NC_000007.12:g.137426955_137426963dup	NCBI36
NG_023342.1:g.20238_20246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.262-99_262-91dup MANE Select	ENSP00000242375.3:n.262-99_262-91dup
ENST00000242375.7:c.262-99_262-91dup	ENSP00000242375.3:n.262-99_262-91dup
ENST00000411726.6:c.262-99_262-91dup	ENSP00000402374.2:n.262-99_262-91dup
ENST00000432161.5:c.262-99_262-91dup	ENSP00000389197.1:n.262-99_262-91dup
ENST00000438242.1:c.94-99_94-91dup	ENSP00000397042.1:n.94-99_94-91dup
ENST00000468877.2:n.222-149_222-141dup
NM_001190906.1:c.262-99_262-91dup	NP_001177835.1:n.262-99_262-91dup
NM_001190907.1:c.262-99_262-91dup	NP_001177836.1:n.262-99_262-91dup
NM_005989.3:c.262-99_262-91dup	NP_005980.1:n.262-99_262-91dup
NM_005989.4:c.262-99_262-91dup MANE Select	NP_005980.1:n.262-99_262-91dup
NM_001190906.2:c.262-99_262-91dup	NP_001177835.1:n.262-99_262-91dup
NM_001190907.2:c.262-99_262-91dup	NP_001177836.1:n.262-99_262-91dup