Canonical Allele Identifier: CA2789814251

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124400975_124400976del , CM000672.2:g.124400975_124400976del	GRCh38
NC_000010.10:g.126089544_126089545del , CM000672.1:g.126089544_126089545del	GRCh37
NC_000010.9:g.126079534_126079535del	NCBI36
NG_008861.1:g.22976_22977del , LRG_685:g.22976_22977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.1024_1025del MANE Select	ENSP00000357838.5:p.Glu342ArgfsTer5
ENST00000368845.5:c.1024_1025del	ENSP00000357838.5:p.Glu342ArgfsTer5
ENST00000471127.1:n.534_535del
ENST00000539214.5:c.610_611del	ENSP00000439042.1:p.Glu204ArgfsTer5
NM_000274.3:c.1024_1025del , LRG_685t1:c.1024_1025del	NP_000265.1:p.Glu342ArgfsTer5
NM_001171814.1:c.610_611del	NP_001165285.1:p.Glu204ArgfsTer5
XM_006717871.2:c.1024_1025del	XP_006717934.1:p.Glu342ArgfsTer5
XM_011539833.1:c.1024_1025del	XP_011538135.1:p.Glu342ArgfsTer5
XM_011539834.1:c.1024_1025del	XP_011538136.1:p.Glu342ArgfsTer5
NM_001322965.1:c.1024_1025del	NP_001309894.1:p.Glu342ArgfsTer5
NM_001322966.1:c.1024_1025del	NP_001309895.1:p.Glu342ArgfsTer5
NM_001322967.1:c.1024_1025del	NP_001309896.1:p.Glu342ArgfsTer5
NM_001322968.1:c.1024_1025del	NP_001309897.1:p.Glu342ArgfsTer5
NM_001322969.1:c.1024_1025del	NP_001309898.1:p.Glu342ArgfsTer5
NM_001322970.1:c.1024_1025del	NP_001309899.1:p.Glu342ArgfsTer5
NM_001322971.1:c.703_704del	NP_001309900.1:p.Glu235ArgfsTer5
NM_001322974.1:c.424_425del	NP_001309903.1:p.Glu142ArgfsTer5
XM_017016279.1:c.424_425del	XP_016871768.1:p.Glu142ArgfsTer5
NM_000274.4:c.1024_1025del MANE Select	NP_000265.1:p.Glu342ArgfsTer5
NM_001322965.2:c.1024_1025del	NP_001309894.1:p.Glu342ArgfsTer5
NM_001322966.2:c.1024_1025del	NP_001309895.1:p.Glu342ArgfsTer5
NM_001322967.2:c.1024_1025del	NP_001309896.1:p.Glu342ArgfsTer5
NM_001322968.2:c.1024_1025del	NP_001309897.1:p.Glu342ArgfsTer5
NM_001322969.2:c.1024_1025del	NP_001309898.1:p.Glu342ArgfsTer5
NM_001322970.2:c.1024_1025del	NP_001309899.1:p.Glu342ArgfsTer5
NM_001322971.2:c.703_704del	NP_001309900.1:p.Glu235ArgfsTer5
NM_001322974.2:c.424_425del	NP_001309903.1:p.Glu142ArgfsTer5
NM_001171814.2:c.610_611del	NP_001165285.1:p.Glu204ArgfsTer5