Canonical Allele Identifier: CA212723
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124412013del , CM000672.2:g.124412013del GRCh38
NC_000010.10:g.126100582del , CM000672.1:g.126100582del GRCh37
NC_000010.9:g.126090572del NCBI36
NG_008861.1:g.11938del , LRG_685:g.11938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.159del MANE Select ENSP00000357838.5:p.His53GlnfsTer8
ENST00000368845.5:c.159del ENSP00000357838.5:p.His53GlnfsTer8
ENST00000476917.5:n.224del
ENST00000490096.5:n.395del
ENST00000492376.1:n.507del
ENST00000539214.5:c.-215-3048del ENSP00000439042.1:n.-215-3048del
NM_000274.3:c.159del , LRG_685t1:c.159del NP_000265.1:p.His53GlnfsTer8
NM_001171814.1:c.-215-3048del NP_001165285.1:n.-215-3048del
XM_006717871.2:c.159del XP_006717934.1:p.His53GlnfsTer8
XM_011539833.1:c.159del XP_011538135.1:p.His53GlnfsTer8
XM_011539834.1:c.159del XP_011538136.1:p.His53GlnfsTer8
NM_001322965.1:c.159del NP_001309894.1:p.His53GlnfsTer8
NM_001322966.1:c.159del NP_001309895.1:p.His53GlnfsTer8
NM_001322967.1:c.159del NP_001309896.1:p.His53GlnfsTer8
NM_001322968.1:c.159del NP_001309897.1:p.His53GlnfsTer8
NM_001322969.1:c.159del NP_001309898.1:p.His53GlnfsTer8
NM_001322970.1:c.159del NP_001309899.1:p.His53GlnfsTer8
NM_001322971.1:c.159del NP_001309900.1:p.His53GlnfsTer8
NM_001322974.1:c.-515-3048del NP_001309903.1:n.-515-3048del
XM_017016279.1:c.-2295del XP_016871768.1:n.-2295del
NM_000274.4:c.159del MANE Select NP_000265.1:p.His53GlnfsTer8
NM_001322965.2:c.159del NP_001309894.1:p.His53GlnfsTer8
NM_001322966.2:c.159del NP_001309895.1:p.His53GlnfsTer8
NM_001322967.2:c.159del NP_001309896.1:p.His53GlnfsTer8
NM_001322968.2:c.159del NP_001309897.1:p.His53GlnfsTer8
NM_001322969.2:c.159del NP_001309898.1:p.His53GlnfsTer8
NM_001322970.2:c.159del NP_001309899.1:p.His53GlnfsTer8
NM_001322971.2:c.159del NP_001309900.1:p.His53GlnfsTer8
NM_001322974.2:c.-515-3048del NP_001309903.1:n.-515-3048del
NM_001171814.2:c.-215-3048del NP_001165285.1:n.-215-3048del