Canonical Allele Identifier: CA2789828664

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124408933_124408934del , CM000672.2:g.124408933_124408934del	GRCh38
NC_000010.10:g.126097502_126097503del , CM000672.1:g.126097502_126097503del	GRCh37
NC_000010.9:g.126087492_126087493del	NCBI36
NG_008861.1:g.15019_15020del , LRG_685:g.15019_15020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.233_234del MANE Select	ENSP00000357838.5:p.Tyr78PhefsTer2
ENST00000368845.5:c.233_234del	ENSP00000357838.5:p.Tyr78PhefsTer2
ENST00000476917.5:n.298_299del
ENST00000490096.5:n.469_470del
ENST00000492376.1:n.581_582del
ENST00000539214.5:c.-182_-181del	ENSP00000439042.1:n.-182_-181del
NM_000274.3:c.233_234del , LRG_685t1:c.233_234del	NP_000265.1:p.Tyr78PhefsTer2
NM_001171814.1:c.-182_-181del	NP_001165285.1:n.-182_-181del
XM_006717871.2:c.233_234del	XP_006717934.1:p.Tyr78PhefsTer2
XM_011539833.1:c.233_234del	XP_011538135.1:p.Tyr78PhefsTer2
XM_011539834.1:c.233_234del	XP_011538136.1:p.Tyr78PhefsTer2
NM_001322965.1:c.233_234del	NP_001309894.1:p.Tyr78PhefsTer2
NM_001322966.1:c.233_234del	NP_001309895.1:p.Tyr78PhefsTer2
NM_001322967.1:c.233_234del	NP_001309896.1:p.Tyr78PhefsTer2
NM_001322968.1:c.233_234del	NP_001309897.1:p.Tyr78PhefsTer2
NM_001322969.1:c.233_234del	NP_001309898.1:p.Tyr78PhefsTer2
NM_001322970.1:c.233_234del	NP_001309899.1:p.Tyr78PhefsTer2
NM_001322971.1:c.199+3041_199+3042del	NP_001309900.1:n.199+3041_199+3042del
NM_001322974.1:c.-482_-481del	NP_001309903.1:n.-482_-481del
XM_017016279.1:c.-2221_-2220del	XP_016871768.1:n.-2221_-2220del
NM_000274.4:c.233_234del MANE Select	NP_000265.1:p.Tyr78PhefsTer2
NM_001322965.2:c.233_234del	NP_001309894.1:p.Tyr78PhefsTer2
NM_001322966.2:c.233_234del	NP_001309895.1:p.Tyr78PhefsTer2
NM_001322967.2:c.233_234del	NP_001309896.1:p.Tyr78PhefsTer2
NM_001322968.2:c.233_234del	NP_001309897.1:p.Tyr78PhefsTer2
NM_001322969.2:c.233_234del	NP_001309898.1:p.Tyr78PhefsTer2
NM_001322970.2:c.233_234del	NP_001309899.1:p.Tyr78PhefsTer2
NM_001322971.2:c.199+3041_199+3042del	NP_001309900.1:n.199+3041_199+3042del
NM_001322974.2:c.-482_-481del	NP_001309903.1:n.-482_-481del
NM_001171814.2:c.-182_-181del	NP_001165285.1:n.-182_-181del