Canonical Allele Identifier: CA2643251574
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11248068-GATTTCTTCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248077_11248085del , CM000663.2:g.11248077_11248085del GRCh38
NC_000001.10:g.11308134_11308142del , CM000663.1:g.11308134_11308142del GRCh37
NC_000001.9:g.11230721_11230729del NCBI36
NG_033239.1:g.19475_19483del , LRG_734:g.19475_19483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.858_866del ENSP00000515181.1:p.Met286_Glu288del
ENST00000703132.1:n.839_847del
ENST00000703140.1:c.858_866del ENSP00000515197.1:p.Met286_Glu288del
ENST00000703141.1:c.858_866del ENSP00000515198.1:p.Met286_Glu288del
ENST00000703142.1:c.858_866del ENSP00000515199.1:p.Met286_Glu288del
ENST00000703143.1:c.858_866del ENSP00000515200.1:p.Met286_Glu288del
ENST00000361445.9:c.858_866del MANE Select ENSP00000354558.4:p.Met286_Glu288del
ENST00000361445.8:c.858_866del ENSP00000354558.4:p.Met286_Glu288del
NM_004958.3:c.858_866del , LRG_734t1:c.858_866del NP_004949.1:p.Met286_Glu288del
XM_005263438.1:c.858_866del XP_005263495.1:p.Met286_Glu288del
XM_011541166.1:c.858_866del XP_011539468.1:p.Met286_Glu288del
XR_244786.1:n.979_987del
XM_005263438.2:c.858_866del XP_005263495.1:p.Met286_Glu288del
XM_011541166.2:c.858_866del XP_011539468.1:p.Met286_Glu288del
XM_017000900.1:c.177_185del XP_016856389.1:p.Met59_Glu61del
XM_017000901.1:c.-282_-274del XP_016856390.1:n.-282_-274del
XM_017000902.1:c.858_866del XP_016856391.1:p.Met286_Glu288del
XM_024446187.1:c.858_866del XP_024301955.1:p.Met286_Glu288del
XR_001737087.1:n.979_987del
NM_004958.4:c.858_866del MANE Select NP_004949.1:p.Met286_Glu288del
NM_001386500.1:c.858_866del NP_001373429.1:p.Met286_Glu288del
NM_001386501.1:c.-282_-274del NP_001373430.1:n.-282_-274del
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