Canonical Allele Identifier: CA2789814123
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124398224_124398225del , CM000672.2:g.124398224_124398225del GRCh38
NC_000010.10:g.126086793_126086794del , CM000672.1:g.126086793_126086794del GRCh37
NC_000010.9:g.126076783_126076784del NCBI36
NG_008861.1:g.25726_25727del , LRG_685:g.25726_25727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.1160-123_1160-122del MANE Select ENSP00000357838.5:n.1160-123_1160-122del
ENST00000368845.5:c.1160-123_1160-122del ENSP00000357838.5:n.1160-123_1160-122del
ENST00000471127.1:n.670-123_670-122del
ENST00000539214.5:c.746-123_746-122del ENSP00000439042.1:n.746-123_746-122del
NM_000274.3:c.1160-123_1160-122del , LRG_685t1:c.1160-123_1160-122del NP_000265.1:n.1160-123_1160-122del
NM_001171814.1:c.746-123_746-122del NP_001165285.1:n.746-123_746-122del
XM_006717871.2:c.1160-123_1160-122del XP_006717934.1:n.1160-123_1160-122del
XM_011539833.1:c.1160-123_1160-122del XP_011538135.1:n.1160-123_1160-122del
XM_011539834.1:c.1160-123_1160-122del XP_011538136.1:n.1160-123_1160-122del
NM_001322965.1:c.1160-123_1160-122del NP_001309894.1:n.1160-123_1160-122del
NM_001322966.1:c.1160-123_1160-122del NP_001309895.1:n.1160-123_1160-122del
NM_001322967.1:c.1160-123_1160-122del NP_001309896.1:n.1160-123_1160-122del
NM_001322968.1:c.1160-123_1160-122del NP_001309897.1:n.1160-123_1160-122del
NM_001322969.1:c.1160-123_1160-122del NP_001309898.1:n.1160-123_1160-122del
NM_001322970.1:c.1160-123_1160-122del NP_001309899.1:n.1160-123_1160-122del
NM_001322971.1:c.839-123_839-122del NP_001309900.1:n.839-123_839-122del
NM_001322974.1:c.560-123_560-122del NP_001309903.1:n.560-123_560-122del
XM_017016279.1:c.560-123_560-122del XP_016871768.1:n.560-123_560-122del
NM_000274.4:c.1160-123_1160-122del MANE Select NP_000265.1:n.1160-123_1160-122del
NM_001322965.2:c.1160-123_1160-122del NP_001309894.1:n.1160-123_1160-122del
NM_001322966.2:c.1160-123_1160-122del NP_001309895.1:n.1160-123_1160-122del
NM_001322967.2:c.1160-123_1160-122del NP_001309896.1:n.1160-123_1160-122del
NM_001322968.2:c.1160-123_1160-122del NP_001309897.1:n.1160-123_1160-122del
NM_001322969.2:c.1160-123_1160-122del NP_001309898.1:n.1160-123_1160-122del
NM_001322970.2:c.1160-123_1160-122del NP_001309899.1:n.1160-123_1160-122del
NM_001322971.2:c.839-123_839-122del NP_001309900.1:n.839-123_839-122del
NM_001322974.2:c.560-123_560-122del NP_001309903.1:n.560-123_560-122del
NM_001171814.2:c.746-123_746-122del NP_001165285.1:n.746-123_746-122del