Canonical Allele Identifier: CA2789814100
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124398198_124398199del , CM000672.2:g.124398198_124398199del GRCh38
NC_000010.10:g.126086767_126086768del , CM000672.1:g.126086767_126086768del GRCh37
NC_000010.9:g.126076757_126076758del NCBI36
NG_008861.1:g.25752_25753del , LRG_685:g.25752_25753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.1160-97_1160-96del MANE Select ENSP00000357838.5:n.1160-97_1160-96del
ENST00000368845.5:c.1160-97_1160-96del ENSP00000357838.5:n.1160-97_1160-96del
ENST00000471127.1:n.670-97_670-96del
ENST00000539214.5:c.746-97_746-96del ENSP00000439042.1:n.746-97_746-96del
NM_000274.3:c.1160-97_1160-96del , LRG_685t1:c.1160-97_1160-96del NP_000265.1:n.1160-97_1160-96del
NM_001171814.1:c.746-97_746-96del NP_001165285.1:n.746-97_746-96del
XM_006717871.2:c.1160-97_1160-96del XP_006717934.1:n.1160-97_1160-96del
XM_011539833.1:c.1160-97_1160-96del XP_011538135.1:n.1160-97_1160-96del
XM_011539834.1:c.1160-97_1160-96del XP_011538136.1:n.1160-97_1160-96del
NM_001322965.1:c.1160-97_1160-96del NP_001309894.1:n.1160-97_1160-96del
NM_001322966.1:c.1160-97_1160-96del NP_001309895.1:n.1160-97_1160-96del
NM_001322967.1:c.1160-97_1160-96del NP_001309896.1:n.1160-97_1160-96del
NM_001322968.1:c.1160-97_1160-96del NP_001309897.1:n.1160-97_1160-96del
NM_001322969.1:c.1160-97_1160-96del NP_001309898.1:n.1160-97_1160-96del
NM_001322970.1:c.1160-97_1160-96del NP_001309899.1:n.1160-97_1160-96del
NM_001322971.1:c.839-97_839-96del NP_001309900.1:n.839-97_839-96del
NM_001322974.1:c.560-97_560-96del NP_001309903.1:n.560-97_560-96del
XM_017016279.1:c.560-97_560-96del XP_016871768.1:n.560-97_560-96del
NM_000274.4:c.1160-97_1160-96del MANE Select NP_000265.1:n.1160-97_1160-96del
NM_001322965.2:c.1160-97_1160-96del NP_001309894.1:n.1160-97_1160-96del
NM_001322966.2:c.1160-97_1160-96del NP_001309895.1:n.1160-97_1160-96del
NM_001322967.2:c.1160-97_1160-96del NP_001309896.1:n.1160-97_1160-96del
NM_001322968.2:c.1160-97_1160-96del NP_001309897.1:n.1160-97_1160-96del
NM_001322969.2:c.1160-97_1160-96del NP_001309898.1:n.1160-97_1160-96del
NM_001322970.2:c.1160-97_1160-96del NP_001309899.1:n.1160-97_1160-96del
NM_001322971.2:c.839-97_839-96del NP_001309900.1:n.839-97_839-96del
NM_001322974.2:c.560-97_560-96del NP_001309903.1:n.560-97_560-96del
NM_001171814.2:c.746-97_746-96del NP_001165285.1:n.746-97_746-96del