Canonical Allele Identifier: CA2580060495

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11127072_11127076dup , CM000663.2:g.11127072_11127076dup	GRCh38
NC_000001.10:g.11187129_11187133dup , CM000663.1:g.11187129_11187133dup	GRCh37
NC_000001.9:g.11109716_11109720dup	NCBI36
NG_033239.1:g.140476_140480dup , LRG_734:g.140476_140480dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.6285_6289dup MANE Select	NP_004949.1:p.Leu2097ArgfsTer27
ENST00000361445.9:c.6285_6289dup MANE Select	ENSP00000354558.4:p.Leu2097ArgfsTer27
NM_001386500.1:c.6285_6289dup	NP_001373429.1:p.Leu2097ArgfsTer27
NM_001386501.1:c.5037_5041dup	NP_001373430.1:p.Leu1681ArgfsTer27
NM_004958.3:c.6285_6289dup , LRG_734t1:c.6285_6289dup	NP_004949.1:p.Leu2097ArgfsTer27
ENST00000361445.8:c.6285_6289dup	ENSP00000354558.4:p.Leu2097ArgfsTer27
ENST00000376838.5:c.900_904dup	ENSP00000366034.1:p.Leu302ArgfsTer27
ENST00000703118.1:c.*1660_*1664dup	ENSP00000515181.1:n.*1660_*1664dup
ENST00000703131.1:n.2286_2290dup
ENST00000703139.1:c.922_926dup
ENST00000703140.1:c.6072_6076dup	ENSP00000515197.1:p.Leu2026ArgfsTer27
ENST00000703141.1:c.*1802_*1806dup	ENSP00000515198.1:n.*1802_*1806dup
ENST00000703142.1:c.*3115_*3119dup	ENSP00000515199.1:n.*3115_*3119dup
XM_005263438.1:c.6285_6289dup	XP_005263495.1:p.Leu2097ArgfsTer27
XM_005263438.2:c.6285_6289dup	XP_005263495.1:p.Leu2097ArgfsTer27
XM_017000900.1:c.5604_5608dup	XP_016856389.1:p.Leu1870ArgfsTer27
XM_017000901.1:c.5037_5041dup	XP_016856390.1:p.Leu1681ArgfsTer27
XM_024446187.1:c.6285_6289dup	XP_024301955.1:p.Leu2097ArgfsTer27
XR_001737087.1:n.6406_6410dup
XR_244786.1:n.6406_6410dup