Canonical Allele Identifier: CA1139655958
Community Standard Title: NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11112877_11112882del , CM000663.2:g.11112877_11112882del GRCh38
NC_000001.10:g.11172934_11172939del , CM000663.1:g.11172934_11172939del GRCh37
NC_000001.9:g.11095521_11095526del NCBI36
NG_033239.1:g.154670_154675del , LRG_734:g.154670_154675del

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.7336_7341del MANE Select NP_004949.1:p.Thr2446_Asp2447del
ENST00000361445.9:c.7336_7341del MANE Select ENSP00000354558.4:p.Thr2446_Asp2447del
NM_001386500.1:c.7336_7341del NP_001373429.1:p.Thr2446_Asp2447del
NM_001386501.1:c.6088_6093del NP_001373430.1:p.Thr2030_Asp2031del
NM_004958.3:c.7336_7341del , LRG_734t1:c.7336_7341del NP_004949.1:p.Thr2446_Asp2447del
ENST00000361445.8:c.7336_7341del ENSP00000354558.4:p.Thr2446_Asp2447del
ENST00000376838.5:c.1951_1956del ENSP00000366034.1:p.Thr651_Asp652del
ENST00000455339.1:c.304_309del ENSP00000398745.1:p.Thr102_Asp103del
ENST00000473471.5:n.348_353del
ENST00000490931.1:n.379_384del
ENST00000703118.1:c.*2711_*2716del ENSP00000515181.1:n.*2711_*2716del
ENST00000703131.1:n.3254_3259del
ENST00000703139.1:c.2124_2129del
ENST00000703140.1:c.7123_7128del ENSP00000515197.1:p.Thr2375_Asp2376del
ENST00000703141.1:c.*2853_*2858del ENSP00000515198.1:n.*2853_*2858del
ENST00000703142.1:c.*4166_*4171del ENSP00000515199.1:n.*4166_*4171del
XM_005263438.1:c.7336_7341del XP_005263495.1:p.Thr2446_Asp2447del
XM_005263438.2:c.7336_7341del XP_005263495.1:p.Thr2446_Asp2447del
XM_017000900.1:c.6655_6660del XP_016856389.1:p.Thr2219_Asp2220del
XM_017000901.1:c.6088_6093del XP_016856390.1:p.Thr2030_Asp2031del
XM_024446187.1:c.7336_7341del XP_024301955.1:p.Thr2446_Asp2447del
XR_001737087.1:n.7374_7379del