Canonical Allele Identifier: CA144161
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124408580_124408594del , CM000672.2:g.124408580_124408594del GRCh38
NC_000010.10:g.126097149_126097163del , CM000672.1:g.126097149_126097163del GRCh37
NC_000010.9:g.126087139_126087153del NCBI36
NG_008861.1:g.15361_15375del , LRG_685:g.15361_15375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.472_486del MANE Select ENSP00000357838.5:p.Tyr158_Gly162del
ENST00000368845.5:c.472_486del ENSP00000357838.5:p.Tyr158_Gly162del
ENST00000467675.5:n.99_113del
ENST00000476917.5:n.537_551del
ENST00000539214.5:c.58_72del ENSP00000439042.1:p.Tyr20_Gly24del
NM_000274.3:c.472_486del , LRG_685t1:c.472_486del NP_000265.1:p.Tyr158_Gly162del
NM_001171814.1:c.58_72del NP_001165285.1:p.Tyr20_Gly24del
XM_006717871.2:c.472_486del XP_006717934.1:p.Tyr158_Gly162del
XM_011539833.1:c.472_486del XP_011538135.1:p.Tyr158_Gly162del
XM_011539834.1:c.472_486del XP_011538136.1:p.Tyr158_Gly162del
NM_001322965.1:c.472_486del NP_001309894.1:p.Tyr158_Gly162del
NM_001322966.1:c.472_486del NP_001309895.1:p.Tyr158_Gly162del
NM_001322967.1:c.472_486del NP_001309896.1:p.Tyr158_Gly162del
NM_001322968.1:c.472_486del NP_001309897.1:p.Tyr158_Gly162del
NM_001322969.1:c.472_486del NP_001309898.1:p.Tyr158_Gly162del
NM_001322970.1:c.472_486del NP_001309899.1:p.Tyr158_Gly162del
NM_001322971.1:c.200-3027_200-3013del NP_001309900.1:n.200-3027_200-3013del
NM_001322974.1:c.-243_-229del NP_001309903.1:n.-243_-229del
XM_017016279.1:c.-1982_-1968del XP_016871768.1:n.-1982_-1968del
NM_000274.4:c.472_486del MANE Select NP_000265.1:p.Tyr158_Gly162del
NM_001322965.2:c.472_486del NP_001309894.1:p.Tyr158_Gly162del
NM_001322966.2:c.472_486del NP_001309895.1:p.Tyr158_Gly162del
NM_001322967.2:c.472_486del NP_001309896.1:p.Tyr158_Gly162del
NM_001322968.2:c.472_486del NP_001309897.1:p.Tyr158_Gly162del
NM_001322969.2:c.472_486del NP_001309898.1:p.Tyr158_Gly162del
NM_001322970.2:c.472_486del NP_001309899.1:p.Tyr158_Gly162del
NM_001322971.2:c.200-3027_200-3013del NP_001309900.1:n.200-3027_200-3013del
NM_001322974.2:c.-243_-229del NP_001309903.1:n.-243_-229del
NM_001171814.2:c.58_72del NP_001165285.1:p.Tyr20_Gly24del