Canonical Allele Identifier: CA2753333535
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178733847_178733849del , CM000664.2:g.178733847_178733849del GRCh38
NC_000002.11:g.179598574_179598576del , CM000664.1:g.179598574_179598576del GRCh37
NC_000002.10:g.179306819_179306821del NCBI36
NG_011618.3:g.101958_101960del , LRG_391:g.101958_101960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.11812_11814del ENSP00000343764.6:p.Gly3938del
ENST00000342175.11:c.13858+4237_13858+4239del ENSP00000340554.6:n.13858+4237_13858+4239del
ENST00000359218.10:c.13657+4237_13657+4239del ENSP00000352154.5:n.13657+4237_13657+4239del
ENST00000342175.10:c.13858+4237_13858+4239del ENSP00000340554.6:n.13858+4237_13858+4239del
ENST00000342992.10:c.11812_11814del ENSP00000343764.6:p.Gly3938del
ENST00000359218.9:c.13657+4237_13657+4239del ENSP00000352154.5:n.13657+4237_13657+4239del
ENST00000460472.6:c.13282+4237_13282+4239del ENSP00000434586.1:n.13282+4237_13282+4239del
ENST00000589042.5:c.15544_15546del MANE Select ENSP00000467141.1:p.Gly5182del
ENST00000591111.5:c.14593_14595del ENSP00000465570.1:p.Gly4865del
ENST00000615779.4:c.14593_14595del ENSP00000483597.1:p.Gly4865del
NM_001256850.1:c.14593_14595del NP_001243779.1:p.Gly4865del
NM_001267550.2:c.15544_15546del MANE Select NP_001254479.2:p.Gly5182del
NM_003319.4:c.13282+4237_13282+4239del NP_003310.4:n.13282+4237_13282+4239del
NM_133378.4:c.11812_11814del NP_596869.4:p.Gly3938del
NM_133432.3:c.13657+4237_13657+4239del NP_597676.3:n.13657+4237_13657+4239del
NM_133437.4:c.13858+4237_13858+4239del NP_597681.4:n.13858+4237_13858+4239del
XM_011511729.1:c.14641_14643del XP_011510031.1:p.Gly4881del
XM_011511730.1:c.13468+4237_13468+4239del XP_011510032.1:n.13468+4237_13468+4239del
XM_011511731.1:c.13327+4237_13327+4239del XP_011510033.1:n.13327+4237_13327+4239del
XM_017004819.1:c.14596_14598del XP_016860308.1:p.Gly4866del
XM_017004820.1:c.11815_11817del XP_016860309.1:p.Gly3939del
XM_017004821.1:c.11812_11814del XP_016860310.1:p.Gly3938del
XM_017004822.1:c.14596_14598del XP_016860311.1:p.Gly4866del
XM_017004823.1:c.13423+4237_13423+4239del XP_016860312.1:n.13423+4237_13423+4239del
XM_024453094.1:c.14596_14598del XP_024308862.1:p.Gly4866del
XM_024453095.1:c.14596_14598del XP_024308863.1:p.Gly4866del
XM_024453096.1:c.14596_14598del XP_024308864.1:p.Gly4866del
XM_024453097.1:c.14596_14598del XP_024308865.1:p.Gly4866del
XM_024453098.1:c.14596_14598del XP_024308866.1:p.Gly4866del
XM_024453099.1:c.13423+4237_13423+4239del XP_024308867.1:n.13423+4237_13423+4239del