Canonical Allele Identifier: CA2739272278
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 2814473
ClinVar RCV Id: RCV003680949
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247821del , CM000663.2:g.11247821del GRCh38
NC_000001.10:g.11307878del , CM000663.1:g.11307878del GRCh37
NC_000001.9:g.11230465del NCBI36
NG_033239.1:g.19731del , LRG_734:g.19731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1114del ENSP00000515181.1:p.Gln372ArgfsTer7
ENST00000703132.1:n.1095del
ENST00000703140.1:c.1114del ENSP00000515197.1:p.Gln372ArgfsTer7
ENST00000703141.1:c.1114del ENSP00000515198.1:p.Gln372ArgfsTer7
ENST00000703142.1:c.1114del ENSP00000515199.1:p.Gln372ArgfsTer7
ENST00000703143.1:c.1114del ENSP00000515200.1:p.Gln372ArgfsTer7
ENST00000703144.1:n.84del
ENST00000361445.9:c.1114del MANE Select ENSP00000354558.4:p.Gln372ArgfsTer7
ENST00000361445.8:c.1114del ENSP00000354558.4:p.Gln372ArgfsTer7
NM_004958.3:c.1114del , LRG_734t1:c.1114del NP_004949.1:p.Gln372ArgfsTer7
XM_005263438.1:c.1114del XP_005263495.1:p.Gln372ArgfsTer7
XM_011541166.1:c.1114del XP_011539468.1:p.Gln372ArgfsTer7
XR_244786.1:n.1235del
XM_005263438.2:c.1114del XP_005263495.1:p.Gln372ArgfsTer7
XM_011541166.2:c.1114del XP_011539468.1:p.Gln372ArgfsTer7
XM_017000900.1:c.433del XP_016856389.1:p.Gln145ArgfsTer7
XM_017000901.1:c.-26del XP_016856390.1:n.-26del
XM_017000902.1:c.1114del XP_016856391.1:p.Gln372ArgfsTer7
XM_024446187.1:c.1114del XP_024301955.1:p.Gln372ArgfsTer7
XR_001737087.1:n.1235del
NM_004958.4:c.1114del MANE Select NP_004949.1:p.Gln372ArgfsTer7
NM_001386500.1:c.1114del NP_001373429.1:p.Gln372ArgfsTer7
NM_001386501.1:c.-26del NP_001373430.1:n.-26del
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