Canonical Allele Identifier: CA2608080689

Gene: AKR1C3 AKR1C2 AKR1C1

Linked Data

• gnomAD v4: 10-5098852-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5098854_5098855del , CM000672.2:g.5098854_5098855del	GRCh38
NC_000010.10:g.5141046_5141047del , CM000672.1:g.5141046_5141047del	GRCh37
NC_000010.9:g.5131046_5131047del	NCBI36
NG_047094.1:g.55089_55090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380554.5:c.422_423del (AKR1C3) MANE Select	ENSP00000369927.3:p.Ile141SerfsTer14
ENST00000380554.4:c.422_423del (AKR1C3)	ENSP00000369927.3:p.Ile141SerfsTer14
ENST00000407674.5:c.180+33820_180+33821del (AKR1C2)	ENSP00000385221.2:n.180+33820_180+33821de...
ENST00000434459.6:c.933-8607_933-8606del (AKR1C1)	ENSP00000412248.3:n.933-8607_933-8606del
ENST00000439082.7:c.422_423del	ENSP00000401327.3:p.Ile141SerfsTer14
ENST00000602997.5:c.353_354del (AKR1C3)	ENSP00000474188.1:p.Ile118SerfsTer14
ENST00000605149.5:c.353_354del (AKR1C3)	ENSP00000474882.1:p.Ile118SerfsTer14
ENST00000605322.1:n.280-473_280-472del (AKR1C3)
ENST00000605781.5:n.601_602del (AKR1C3)
NM_001253908.1:c.422_423del (AKR1C3)	NP_001240837.1:p.Ile141SerfsTer14
NM_003739.5:c.422_423del (AKR1C3)	NP_003730.4:p.Ile141SerfsTer14
NM_003739.6:c.422_423del (AKR1C3) MANE Select	NP_003730.4:p.Ile141SerfsTer14
NM_001253908.2:c.422_423del (AKR1C3)	NP_001240837.1:p.Ile141SerfsTer14