Canonical Allele Identifier: CA2499220187

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405509del , CM000672.2:g.124405509del	GRCh38
NC_000010.10:g.126094078del , CM000672.1:g.126094078del	GRCh37
NC_000010.9:g.126084068del	NCBI36
NG_008861.1:g.18443del , LRG_685:g.18443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.576del MANE Select	ENSP00000357838.5:p.Ser193ValfsTer?
ENST00000368845.5:c.576del	ENSP00000357838.5:p.Ser193ValfsTer?
ENST00000467675.5:n.377del
ENST00000483711.1:n.422del
ENST00000539214.5:c.162del	ENSP00000439042.1:p.Ser55ValfsTer?
NM_000274.3:c.576del , LRG_685t1:c.576del	NP_000265.1:p.Ser193ValfsTer?
NM_001171814.1:c.162del	NP_001165285.1:p.Ser55ValfsTer?
XM_006717871.2:c.576del	XP_006717934.1:p.Ser193ValfsTer?
XM_011539833.1:c.576del	XP_011538135.1:p.Ser193ValfsTer?
XM_011539834.1:c.576del	XP_011538136.1:p.Ser193ValfsTer?
NM_001322965.1:c.576del	NP_001309894.1:p.Ser193ValfsTer?
NM_001322966.1:c.576del	NP_001309895.1:p.Ser193ValfsTer?
NM_001322967.1:c.576del	NP_001309896.1:p.Ser193ValfsTer?
NM_001322968.1:c.576del	NP_001309897.1:p.Ser193ValfsTer?
NM_001322969.1:c.576del	NP_001309898.1:p.Ser193ValfsTer?
NM_001322970.1:c.576del	NP_001309899.1:p.Ser193ValfsTer?
NM_001322971.1:c.255del	NP_001309900.1:p.Ser86ValfsTer?
NM_001322974.1:c.-25del	NP_001309903.1:n.-25del
XM_017016279.1:c.-25del	XP_016871768.1:n.-25del
NM_000274.4:c.576del MANE Select	NP_000265.1:p.Ser193ValfsTer?
NM_001322965.2:c.576del	NP_001309894.1:p.Ser193ValfsTer?
NM_001322966.2:c.576del	NP_001309895.1:p.Ser193ValfsTer?
NM_001322967.2:c.576del	NP_001309896.1:p.Ser193ValfsTer?
NM_001322968.2:c.576del	NP_001309897.1:p.Ser193ValfsTer?
NM_001322969.2:c.576del	NP_001309898.1:p.Ser193ValfsTer?
NM_001322970.2:c.576del	NP_001309899.1:p.Ser193ValfsTer?
NM_001322971.2:c.255del	NP_001309900.1:p.Ser86ValfsTer?
NM_001322974.2:c.-25del	NP_001309903.1:n.-25del
NM_001171814.2:c.162del	NP_001165285.1:p.Ser55ValfsTer?