Canonical Allele Identifier: CA17935982
Community Standard Title: NM_004958.4(MTOR):c.6810+193_6810+194del
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11121786_11121787del , CM000663.2:g.11121786_11121787del GRCh38
NC_000001.10:g.11181843_11181844del , CM000663.1:g.11181843_11181844del GRCh37
NC_000001.9:g.11104430_11104431del NCBI36
NG_033239.1:g.145766_145767del , LRG_734:g.145766_145767del

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.6810+193_6810+194del MANE Select NP_004949.1:n.6810+193_6810+194del
ENST00000361445.9:c.6810+193_6810+194del MANE Select ENSP00000354558.4:n.6810+193_6810+194del
NM_001386500.1:c.6810+193_6810+194del NP_001373429.1:n.6810+193_6810+194del
NM_001386501.1:c.5562+193_5562+194del NP_001373430.1:n.5562+193_5562+194del
NM_004958.3:c.6810+193_6810+194del , LRG_734t1:c.6810+193_6810+194del NP_004949.1:n.6810+193_6810+194del
ENST00000361445.8:c.6810+193_6810+194del ENSP00000354558.4:n.6810+193_6810+194del
ENST00000376838.5:c.1425+193_1425+194del ENSP00000366034.1:n.1425+193_1425+194del
ENST00000703118.1:c.*2185+193_*2185+194del ENSP00000515181.1:n.*2185+193_*2185+194del
ENST00000703131.1:n.2811+193_2811+194del
ENST00000703139.1:c.1447+193_1447+194del
ENST00000703140.1:c.6597+193_6597+194del ENSP00000515197.1:n.6597+193_6597+194del
ENST00000703141.1:c.*2327+193_*2327+194del ENSP00000515198.1:n.*2327+193_*2327+194del
ENST00000703142.1:c.*3640+193_*3640+194del ENSP00000515199.1:n.*3640+193_*3640+194del
XM_005263438.1:c.6810+193_6810+194del XP_005263495.1:n.6810+193_6810+194del
XM_005263438.2:c.6810+193_6810+194del XP_005263495.1:n.6810+193_6810+194del
XM_017000900.1:c.6129+193_6129+194del XP_016856389.1:n.6129+193_6129+194del
XM_017000901.1:c.5562+193_5562+194del XP_016856390.1:n.5562+193_5562+194del
XM_024446187.1:c.6810+193_6810+194del XP_024301955.1:n.6810+193_6810+194del
XR_001737087.1:n.6931+193_6931+194del
XR_244786.1:n.6931+193_6931+194del