Canonical Allele Identifier: CA3085713672
Community Standard Title: NM_001267550.2(TTN):c.52307_52310del (p.Ile17436LysfsTer9)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608704_178608707del , CM000664.2:g.178608704_178608707del GRCh38
NC_000002.11:g.179473431_179473434del , CM000664.1:g.179473431_179473434del GRCh37
NC_000002.10:g.179181676_179181679del NCBI36
NG_011618.3:g.227099_227102del , LRG_391:g.227099_227102del
NG_051363.1:g.90878_90881del

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52307_52310del (TTN) MANE Select NP_001254479.2:p.Ile17436LysfsTer9
ENST00000589042.5:c.52307_52310del (TTN) MANE Select ENSP00000467141.1:p.Ile17436LysfsTer9
NM_001256850.1:c.47384_47387del (TTN) NP_001243779.1:p.Ile15795LysfsTer9
NM_003319.4:c.25112_25115del (TTN) NP_003310.4:p.Ile8371LysfsTer9
NM_133378.4:c.44603_44606del (TTN) NP_596869.4:p.Ile14868LysfsTer9
NM_133432.3:c.25487_25490del (TTN) NP_597676.3:p.Ile8496LysfsTer9
NM_133437.4:c.25688_25691del (TTN) NP_597681.4:p.Ile8563LysfsTer9
NR_038271.1:n.782+438_782+441del (TTN-AS1)
ENST00000342175.10:c.25688_25691del (TTN) ENSP00000340554.6:p.Ile8563LysfsTer9
ENST00000342175.11:c.25688_25691del (TTN) ENSP00000340554.6:p.Ile8563LysfsTer9
ENST00000342992.10:c.44603_44606del (TTN) ENSP00000343764.6:p.Ile14868LysfsTer9
ENST00000342992.11:c.44603_44606del (TTN) ENSP00000343764.6:p.Ile14868LysfsTer9
ENST00000359218.10:c.25487_25490del (TTN) ENSP00000352154.5:p.Ile8496LysfsTer9
ENST00000359218.9:c.25487_25490del (TTN) ENSP00000352154.5:p.Ile8496LysfsTer9
ENST00000460472.6:c.25112_25115del (TTN) ENSP00000434586.1:p.Ile8371LysfsTer9
ENST00000591111.5:c.47384_47387del (TTN) ENSP00000465570.1:p.Ile15795LysfsTer9
ENST00000615779.4:c.47384_47387del (TTN) ENSP00000483597.1:p.Ile15795LysfsTer9
XM_011511729.1:c.51404_51407del (TTN) XP_011510031.1:p.Ile17135LysfsTer9
XM_011511730.1:c.25298_25301del (TTN) XP_011510032.1:p.Ile8433LysfsTer9
XM_011511731.1:c.25157_25160del (TTN) XP_011510033.1:p.Ile8386LysfsTer9
XM_017004819.1:c.51200_51203del (TTN) XP_016860308.1:p.Ile17067LysfsTer9
XM_017004820.1:c.46598_46601del (TTN) XP_016860309.1:p.Ile15533LysfsTer9
XM_017004821.1:c.46595_46598del (TTN) XP_016860310.1:p.Ile15532LysfsTer9
XM_017004822.1:c.43637_43640del (TTN) XP_016860311.1:p.Ile14546LysfsTer9
XM_017004823.1:c.25253_25256del (TTN) XP_016860312.1:p.Ile8418LysfsTer9
XM_024453094.1:c.46748_46751del (TTN) XP_024308862.1:p.Ile15583LysfsTer9
XM_024453095.1:c.46745_46748del (TTN) XP_024308863.1:p.Ile15582LysfsTer9
XM_024453096.1:c.46178_46181del (TTN) XP_024308864.1:p.Ile15393LysfsTer9
XM_024453097.1:c.43520_43523del (TTN) XP_024308865.1:p.Ile14507LysfsTer9
XM_024453098.1:c.43439_43442del (TTN) XP_024308866.1:p.Ile14480LysfsTer9
XM_024453099.1:c.25202_25205del (TTN) XP_024308867.1:p.Ile8401LysfsTer9
XM_024453100.1:c.15056_15059del (TTN) XP_024308868.1:p.Ile5019LysfsTer9