Canonical Allele Identifier: CA5390584

Gene: AKR1C3 AKR1C2 AKR1C1

Linked Data

• dbSNP Id: rs782097392
• ExAC: 10:5141112 AAG / A
• gnomAD v2: 10-5141112-AAG-A
• gnomAD v4: 10-5098920-AAG-A
• MyVariant Identifiers: chr10:g.5141113_5141114del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5098924_5098925del , CM000672.2:g.5098924_5098925del	GRCh38
NC_000010.10:g.5141116_5141117del , CM000672.1:g.5141116_5141117del	GRCh37
NC_000010.9:g.5131116_5131117del	NCBI36
NG_047094.1:g.55159_55160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380554.5:c.447+45_447+46del (AKR1C3) MANE Select	ENSP00000369927.3:n.447+45_447+46del
ENST00000380554.4:c.447+45_447+46del (AKR1C3)	ENSP00000369927.3:n.447+45_447+46del
ENST00000407674.5:c.180+33752_180+33753del (AKR1C2)	ENSP00000385221.2:n.180+33752_180+33753del
ENST00000434459.6:c.933-8537_933-8536del (AKR1C1)	ENSP00000412248.3:n.933-8537_933-8536del
ENST00000439082.7:c.447+45_447+46del	ENSP00000401327.3:n.447+45_447+46del
ENST00000602997.5:c.378+45_378+46del (AKR1C3)	ENSP00000474188.1:n.378+45_378+46del
ENST00000605149.5:c.378+45_378+46del (AKR1C3)	ENSP00000474882.1:n.378+45_378+46del
ENST00000605322.1:n.280-403_280-402del (AKR1C3)
ENST00000605781.5:n.626+45_626+46del (AKR1C3)
NM_001253908.1:c.447+45_447+46del (AKR1C3)	NP_001240837.1:n.447+45_447+46del
NM_003739.5:c.447+45_447+46del (AKR1C3)	NP_003730.4:n.447+45_447+46del
NM_003739.6:c.447+45_447+46del (AKR1C3) MANE Select	NP_003730.4:n.447+45_447+46del
NM_001253908.2:c.447+45_447+46del (AKR1C3)	NP_001240837.1:n.447+45_447+46del