Canonical Allele Identifier: CA590860

Gene: MTOR

Linked Data

• ClinVar Variation Id: 1235116
• ClinVar RCV Id: RCV001621880
• dbSNP Id: rs528498609
• ExAC: 1:11308161 TGAG / T
• gnomAD v2: 1-11308161-TGAG-T
• gnomAD v3: 1-11248104-TGAG-T
• gnomAD v4: 1-11248104-TGAG-T
• MyVariant Identifiers: chr1:g.11308162_11308164del (hg19) ; chr1:g.11248106_11248108del (hg38) ; chr1:g.11248105_11248107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11248110_11248112del , CM000663.2:g.11248110_11248112del	GRCh38
NC_000001.10:g.11308167_11308169del , CM000663.1:g.11308167_11308169del	GRCh37
NC_000001.9:g.11230754_11230756del	NCBI36
NG_033239.1:g.19445_19447del , LRG_734:g.19445_19447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.841-13_841-11del	ENSP00000515181.1:n.841-13_841-11del
ENST00000703132.1:n.822-13_822-11del
ENST00000703140.1:c.841-13_841-11del	ENSP00000515197.1:n.841-13_841-11del
ENST00000703141.1:c.841-13_841-11del	ENSP00000515198.1:n.841-13_841-11del
ENST00000703142.1:c.841-13_841-11del	ENSP00000515199.1:n.841-13_841-11del
ENST00000703143.1:c.841-13_841-11del	ENSP00000515200.1:n.841-13_841-11del
ENST00000361445.9:c.841-13_841-11del MANE Select	ENSP00000354558.4:n.841-13_841-11del
ENST00000361445.8:c.841-13_841-11del	ENSP00000354558.4:n.841-13_841-11del
NM_004958.3:c.841-13_841-11del , LRG_734t1:c.841-13_841-11del	NP_004949.1:n.841-13_841-11del
XM_005263438.1:c.841-13_841-11del	XP_005263495.1:n.841-13_841-11del
XM_011541166.1:c.841-13_841-11del	XP_011539468.1:n.841-13_841-11del
XR_244786.1:n.962-13_962-11del
XM_005263438.2:c.841-13_841-11del	XP_005263495.1:n.841-13_841-11del
XM_011541166.2:c.841-13_841-11del	XP_011539468.1:n.841-13_841-11del
XM_017000900.1:c.160-13_160-11del	XP_016856389.1:n.160-13_160-11del
XM_017000901.1:c.-299-13_-299-11del	XP_016856390.1:n.-299-13_-299-11del
XM_017000902.1:c.841-13_841-11del	XP_016856391.1:n.841-13_841-11del
XM_024446187.1:c.841-13_841-11del	XP_024301955.1:n.841-13_841-11del
XR_001737087.1:n.962-13_962-11del
NM_004958.4:c.841-13_841-11del MANE Select	NP_004949.1:n.841-13_841-11del
NM_001386500.1:c.841-13_841-11del	NP_001373429.1:n.841-13_841-11del
NM_001386501.1:c.-299-13_-299-11del	NP_001373430.1:n.-299-13_-299-11del