Canonical Allele Identifier: CA2580060487

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11114373del , CM000663.2:g.11114373del	GRCh38
NC_000001.10:g.11174430del , CM000663.1:g.11174430del	GRCh37
NC_000001.9:g.11097017del	NCBI36
NG_033239.1:g.153180del , LRG_734:g.153180del

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.7246del MANE Select	NP_004949.1:p.Ala2416ProfsTer12
ENST00000361445.9:c.7246del MANE Select	ENSP00000354558.4:p.Ala2416ProfsTer12
NM_001386500.1:c.7246del	NP_001373429.1:p.Ala2416ProfsTer12
NM_001386501.1:c.5998del	NP_001373430.1:p.Ala2000ProfsTer12
NM_004958.3:c.7246del , LRG_734t1:c.7246del	NP_004949.1:p.Ala2416ProfsTer12
ENST00000361445.8:c.7246del	ENSP00000354558.4:p.Ala2416ProfsTer12
ENST00000376838.5:c.1861del	ENSP00000366034.1:p.Ala621ProfsTer12
ENST00000455339.1:c.214del	ENSP00000398745.1:p.Ala72ProfsTer12
ENST00000473471.5:n.258del
ENST00000490931.1:n.289del
ENST00000703118.1:c.*2621del	ENSP00000515181.1:n.*2621del
ENST00000703131.1:n.3164del
ENST00000703139.1:c.2034del
ENST00000703140.1:c.7033del	ENSP00000515197.1:p.Ala2345ProfsTer12
ENST00000703141.1:c.*2763del	ENSP00000515198.1:n.*2763del
ENST00000703142.1:c.*4076del	ENSP00000515199.1:n.*4076del
XM_005263438.1:c.7246del	XP_005263495.1:p.Ala2416ProfsTer12
XM_005263438.2:c.7246del	XP_005263495.1:p.Ala2416ProfsTer12
XM_017000900.1:c.6565del	XP_016856389.1:p.Ala2189ProfsTer12
XM_017000901.1:c.5998del	XP_016856390.1:p.Ala2000ProfsTer12
XM_024446187.1:c.7246del	XP_024301955.1:p.Ala2416ProfsTer12
XR_001737087.1:n.7284del
XR_244786.1:n.7284del