Canonical Allele Identifier: CA2643251575
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11248095-CTATATA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248099_11248104del , CM000663.2:g.11248099_11248104del GRCh38
NC_000001.10:g.11308156_11308161del , CM000663.1:g.11308156_11308161del GRCh37
NC_000001.9:g.11230743_11230748del NCBI36
NG_033239.1:g.19451_19456del , LRG_734:g.19451_19456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.841-7_841-2del ENSP00000515181.1:n.841-7_841-2del
ENST00000703132.1:n.822-7_822-2del
ENST00000703140.1:c.841-7_841-2del ENSP00000515197.1:n.841-7_841-2del
ENST00000703141.1:c.841-7_841-2del ENSP00000515198.1:n.841-7_841-2del
ENST00000703142.1:c.841-7_841-2del ENSP00000515199.1:n.841-7_841-2del
ENST00000703143.1:c.841-7_841-2del ENSP00000515200.1:n.841-7_841-2del
ENST00000361445.9:c.841-7_841-2del MANE Select ENSP00000354558.4:n.841-7_841-2del
ENST00000361445.8:c.841-7_841-2del ENSP00000354558.4:n.841-7_841-2del
NM_004958.3:c.841-7_841-2del , LRG_734t1:c.841-7_841-2del NP_004949.1:n.841-7_841-2del
XM_005263438.1:c.841-7_841-2del XP_005263495.1:n.841-7_841-2del
XM_011541166.1:c.841-7_841-2del XP_011539468.1:n.841-7_841-2del
XR_244786.1:n.962-7_962-2del
XM_005263438.2:c.841-7_841-2del XP_005263495.1:n.841-7_841-2del
XM_011541166.2:c.841-7_841-2del XP_011539468.1:n.841-7_841-2del
XM_017000900.1:c.160-7_160-2del XP_016856389.1:n.160-7_160-2del
XM_017000901.1:c.-299-7_-299-2del XP_016856390.1:n.-299-7_-299-2del
XM_017000902.1:c.841-7_841-2del XP_016856391.1:n.841-7_841-2del
XM_024446187.1:c.841-7_841-2del XP_024301955.1:n.841-7_841-2del
XR_001737087.1:n.962-7_962-2del
NM_004958.4:c.841-7_841-2del MANE Select NP_004949.1:n.841-7_841-2del
NM_001386500.1:c.841-7_841-2del NP_001373429.1:n.841-7_841-2del
NM_001386501.1:c.-299-7_-299-2del NP_001373430.1:n.-299-7_-299-2del
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