Canonical Allele Identifier: CA588807

Gene: MTOR

Linked Data

• ClinVar Variation Id: 2718522
• ClinVar RCV Id: RCV003551205
• dbSNP Id: rs757450619
• ExAC: 1:11169333 CAT / C
• gnomAD v2: 1-11169333-CAT-C
• gnomAD v3: 1-11109276-CAT-C
• gnomAD v4: 1-11109276-CAT-C
• MyVariant Identifiers: chr1:g.11169334_11169335del (hg19) ; chr1:g.11109277_11109278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109277_11109278del , CM000663.2:g.11109277_11109278del	GRCh38
NC_000001.10:g.11169334_11169335del , CM000663.1:g.11169334_11169335del	GRCh37
NC_000001.9:g.11091921_11091922del	NCBI36
NG_033239.1:g.158274_158275del , LRG_734:g.158274_158275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2903+12_*2903+13del	ENSP00000515181.1:n.*2903+12_*2903+13del
ENST00000703131.1:n.3446+12_3446+13del
ENST00000703139.1:c.2316+12_2316+13del
ENST00000703140.1:c.7315+12_7315+13del	ENSP00000515197.1:n.7315+12_7315+13del
ENST00000703141.1:c.*3045+12_*3045+13del	ENSP00000515198.1:n.*3045+12_*3045+13del
ENST00000703142.1:c.*4358+12_*4358+13del	ENSP00000515199.1:n.*4358+12_*4358+13del
ENST00000361445.9:c.7528+12_7528+13del MANE Select	ENSP00000354558.4:n.7528+12_7528+13del
ENST00000361445.8:c.7528+12_7528+13del	ENSP00000354558.4:n.7528+12_7528+13del
ENST00000376838.5:c.2143+12_2143+13del	ENSP00000366034.1:n.2143+12_2143+13del
ENST00000473471.5:n.540+12_540+13del
ENST00000490931.1:n.811+12_811+13del
NM_004958.3:c.7528+12_7528+13del , LRG_734t1:c.7528+12_7528+13del	NP_004949.1:n.7528+12_7528+13del
XM_005263438.1:c.7528+12_7528+13del	XP_005263495.1:n.7528+12_7528+13del
XM_005263438.2:c.7528+12_7528+13del	XP_005263495.1:n.7528+12_7528+13del
XM_017000900.1:c.6847+12_6847+13del	XP_016856389.1:n.6847+12_6847+13del
XM_017000901.1:c.6280+12_6280+13del	XP_016856390.1:n.6280+12_6280+13del
XM_024446187.1:c.7528+12_7528+13del	XP_024301955.1:n.7528+12_7528+13del
XR_001737087.1:n.7566+12_7566+13del
NM_004958.4:c.7528+12_7528+13del MANE Select	NP_004949.1:n.7528+12_7528+13del
NM_001386500.1:c.7528+12_7528+13del	NP_001373429.1:n.7528+12_7528+13del
NM_001386501.1:c.6280+12_6280+13del	NP_001373430.1:n.6280+12_6280+13del