Canonical Allele Identifier: CA2580060513

Gene: MTOR

Linked Data

• ClinVar Variation Id: 1809681
• ClinVar RCV Id: RCV002488699
• gnomAD v4: 1-11230951-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11230953_11230954del , CM000663.2:g.11230953_11230954del	GRCh38
NC_000001.10:g.11291010_11291011del , CM000663.1:g.11291010_11291011del	GRCh37
NC_000001.9:g.11213597_11213598del	NCBI36
NG_033239.1:g.36599_36600del , LRG_734:g.36599_36600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.2751_2752del	ENSP00000515181.1:p.Ser918ArgfsTer10
ENST00000703132.1:n.2623_2624del
ENST00000703140.1:c.2538_2539del	ENSP00000515197.1:p.Ser847ArgfsTer10
ENST00000703141.1:c.2751_2752del	ENSP00000515198.1:p.Ser918ArgfsTer10
ENST00000703142.1:c.2535_2536del	ENSP00000515199.1:p.Ser846ArgfsTer10
ENST00000361445.9:c.2751_2752del MANE Select	ENSP00000354558.4:p.Ser918ArgfsTer10
ENST00000361445.8:c.2751_2752del	ENSP00000354558.4:p.Ser918ArgfsTer10
NM_004958.3:c.2751_2752del , LRG_734t1:c.2751_2752del	NP_004949.1:p.Ser918ArgfsTer10
XM_005263438.1:c.2751_2752del	XP_005263495.1:p.Ser918ArgfsTer10
XM_011541166.1:c.2751_2752del	XP_011539468.1:p.Ser918ArgfsTer10
XR_244786.1:n.2872_2873del
XM_005263438.2:c.2751_2752del	XP_005263495.1:p.Ser918ArgfsTer10
XM_011541166.2:c.2751_2752del	XP_011539468.1:p.Ser918ArgfsTer10
XM_017000900.1:c.2070_2071del	XP_016856389.1:p.Ser691ArgfsTer10
XM_017000901.1:c.1503_1504del	XP_016856390.1:p.Ser502ArgfsTer10
XM_017000902.1:c.2751_2752del	XP_016856391.1:p.Ser918ArgfsTer10
XM_024446187.1:c.2751_2752del	XP_024301955.1:p.Ser918ArgfsTer10
XR_001737087.1:n.2872_2873del
NM_004958.4:c.2751_2752del MANE Select	NP_004949.1:p.Ser918ArgfsTer10
NM_001386500.1:c.2751_2752del	NP_001373429.1:p.Ser918ArgfsTer10
NM_001386501.1:c.1503_1504del	NP_001373430.1:p.Ser502ArgfsTer10