Canonical Allele Identifier: CA2643251572
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11247845-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247846del , CM000663.2:g.11247846del GRCh38
NC_000001.10:g.11307903del , CM000663.1:g.11307903del GRCh37
NC_000001.9:g.11230490del NCBI36
NG_033239.1:g.19706del , LRG_734:g.19706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1089del ENSP00000515181.1:p.Asp364ThrfsTer2
ENST00000703132.1:n.1070del
ENST00000703140.1:c.1089del ENSP00000515197.1:p.Asp364ThrfsTer2
ENST00000703141.1:c.1089del ENSP00000515198.1:p.Asp364ThrfsTer2
ENST00000703142.1:c.1089del ENSP00000515199.1:p.Asp364ThrfsTer2
ENST00000703143.1:c.1089del ENSP00000515200.1:p.Asp364ThrfsTer2
ENST00000703144.1:n.59del
ENST00000361445.9:c.1089del MANE Select ENSP00000354558.4:p.Asp364ThrfsTer2
ENST00000361445.8:c.1089del ENSP00000354558.4:p.Asp364ThrfsTer2
NM_004958.3:c.1089del , LRG_734t1:c.1089del NP_004949.1:p.Asp364ThrfsTer2
XM_005263438.1:c.1089del XP_005263495.1:p.Asp364ThrfsTer2
XM_011541166.1:c.1089del XP_011539468.1:p.Asp364ThrfsTer2
XR_244786.1:n.1210del
XM_005263438.2:c.1089del XP_005263495.1:p.Asp364ThrfsTer2
XM_011541166.2:c.1089del XP_011539468.1:p.Asp364ThrfsTer2
XM_017000900.1:c.408del XP_016856389.1:p.Asp137ThrfsTer2
XM_017000901.1:c.-51del XP_016856390.1:n.-51del
XM_017000902.1:c.1089del XP_016856391.1:p.Asp364ThrfsTer2
XM_024446187.1:c.1089del XP_024301955.1:p.Asp364ThrfsTer2
XR_001737087.1:n.1210del
NM_004958.4:c.1089del MANE Select NP_004949.1:p.Asp364ThrfsTer2
NM_001386500.1:c.1089del NP_001373429.1:p.Asp364ThrfsTer2
NM_001386501.1:c.-51del NP_001373430.1:n.-51del
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