Canonical Allele Identifier: CA924456354

Gene: AKR1C3 AKR1C2 AKR1C1

Linked Data

• dbSNP Id: rs1839280823
• gnomAD v3: 10-5098916-CAAAAAGAGAAA-C
• gnomAD v4: 10-5098916-CAAAAAGAGAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5098918_5098928del , CM000672.2:g.5098918_5098928del	GRCh38
NC_000010.10:g.5141110_5141120del , CM000672.1:g.5141110_5141120del	GRCh37
NC_000010.9:g.5131110_5131120del	NCBI36
NG_047094.1:g.55153_55163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380554.5:c.447+39_447+49del (AKR1C3) MANE Select	ENSP00000369927.3:n.447+39_447+49del
ENST00000380554.4:c.447+39_447+49del (AKR1C3)	ENSP00000369927.3:n.447+39_447+49del
ENST00000407674.5:c.180+33747_180+33757del (AKR1C2)	ENSP00000385221.2:n.180+33747_180+33757del
ENST00000434459.6:c.933-8543_933-8533del (AKR1C1)	ENSP00000412248.3:n.933-8543_933-8533del
ENST00000439082.7:c.447+39_447+49del	ENSP00000401327.3:n.447+39_447+49del
ENST00000602997.5:c.378+39_378+49del (AKR1C3)	ENSP00000474188.1:n.378+39_378+49del
ENST00000605149.5:c.378+39_378+49del (AKR1C3)	ENSP00000474882.1:n.378+39_378+49del
ENST00000605322.1:n.280-409_280-399del (AKR1C3)
ENST00000605781.5:n.626+39_626+49del (AKR1C3)
NM_001253908.1:c.447+39_447+49del (AKR1C3)	NP_001240837.1:n.447+39_447+49del
NM_003739.5:c.447+39_447+49del (AKR1C3)	NP_003730.4:n.447+39_447+49del
NM_003739.6:c.447+39_447+49del (AKR1C3) MANE Select	NP_003730.4:n.447+39_447+49del
NM_001253908.2:c.447+39_447+49del (AKR1C3)	NP_001240837.1:n.447+39_447+49del