Canonical Allele Identifier: CA2789814250

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124400971_124400972insA , CM000672.2:g.124400971_124400972insA	GRCh38
NC_000010.10:g.126089540_126089541insA , CM000672.1:g.126089540_126089541insA	GRCh37
NC_000010.9:g.126079530_126079531insA	NCBI36
NG_008861.1:g.22979_22980insT , LRG_685:g.22979_22980insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.1027_1028insT MANE Select	ENSP00000357838.5:p.Glu343ValfsTer5
ENST00000368845.5:c.1027_1028insT	ENSP00000357838.5:p.Glu343ValfsTer5
ENST00000471127.1:n.537_538insT
ENST00000539214.5:c.613_614insT	ENSP00000439042.1:p.Glu205ValfsTer5
NM_000274.3:c.1027_1028insT , LRG_685t1:c.1027_1028insT	NP_000265.1:p.Glu343ValfsTer5
NM_001171814.1:c.613_614insT	NP_001165285.1:p.Glu205ValfsTer5
XM_006717871.2:c.1027_1028insT	XP_006717934.1:p.Glu343ValfsTer5
XM_011539833.1:c.1027_1028insT	XP_011538135.1:p.Glu343ValfsTer5
XM_011539834.1:c.1027_1028insT	XP_011538136.1:p.Glu343ValfsTer5
NM_001322965.1:c.1027_1028insT	NP_001309894.1:p.Glu343ValfsTer5
NM_001322966.1:c.1027_1028insT	NP_001309895.1:p.Glu343ValfsTer5
NM_001322967.1:c.1027_1028insT	NP_001309896.1:p.Glu343ValfsTer5
NM_001322968.1:c.1027_1028insT	NP_001309897.1:p.Glu343ValfsTer5
NM_001322969.1:c.1027_1028insT	NP_001309898.1:p.Glu343ValfsTer5
NM_001322970.1:c.1027_1028insT	NP_001309899.1:p.Glu343ValfsTer5
NM_001322971.1:c.706_707insT	NP_001309900.1:p.Glu236ValfsTer5
NM_001322974.1:c.427_428insT	NP_001309903.1:p.Glu143ValfsTer5
XM_017016279.1:c.427_428insT	XP_016871768.1:p.Glu143ValfsTer5
NM_000274.4:c.1027_1028insT MANE Select	NP_000265.1:p.Glu343ValfsTer5
NM_001322965.2:c.1027_1028insT	NP_001309894.1:p.Glu343ValfsTer5
NM_001322966.2:c.1027_1028insT	NP_001309895.1:p.Glu343ValfsTer5
NM_001322967.2:c.1027_1028insT	NP_001309896.1:p.Glu343ValfsTer5
NM_001322968.2:c.1027_1028insT	NP_001309897.1:p.Glu343ValfsTer5
NM_001322969.2:c.1027_1028insT	NP_001309898.1:p.Glu343ValfsTer5
NM_001322970.2:c.1027_1028insT	NP_001309899.1:p.Glu343ValfsTer5
NM_001322971.2:c.706_707insT	NP_001309900.1:p.Glu236ValfsTer5
NM_001322974.2:c.427_428insT	NP_001309903.1:p.Glu143ValfsTer5
NM_001171814.2:c.613_614insT	NP_001165285.1:p.Glu205ValfsTer5