Canonical Allele Identifier: CA309410
Community Standard Title: NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437AspfsTer2)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178608704_178608707dup , CM000664.2:g.178608704_178608707dup GRCh38
NC_000002.11:g.179473431_179473434dup , CM000664.1:g.179473431_179473434dup GRCh37
NC_000002.10:g.179181676_179181679dup NCBI36
NG_011618.3:g.227099_227102dup , LRG_391:g.227099_227102dup
NG_051363.1:g.90878_90881dup

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52307_52310dup (TTN) MANE Select NP_001254479.2:p.Glu17437AspfsTer2
ENST00000589042.5:c.52307_52310dup (TTN) MANE Select ENSP00000467141.1:p.Glu17437AspfsTer2
NM_001256850.1:c.47384_47387dup (TTN) NP_001243779.1:p.Glu15796AspfsTer2
NM_003319.4:c.25112_25115dup (TTN) NP_003310.4:p.Glu8372AspfsTer2
NM_133378.4:c.44603_44606dup (TTN) NP_596869.4:p.Glu14869AspfsTer2
NM_133432.3:c.25487_25490dup (TTN) NP_597676.3:p.Glu8497AspfsTer2
NM_133437.4:c.25688_25691dup (TTN) NP_597681.4:p.Glu8564AspfsTer2
NR_038271.1:n.782+438_782+441dup (TTN-AS1)
ENST00000342175.10:c.25688_25691dup (TTN) ENSP00000340554.6:p.Glu8564AspfsTer2
ENST00000342175.11:c.25688_25691dup (TTN) ENSP00000340554.6:p.Glu8564AspfsTer2
ENST00000342992.10:c.44603_44606dup (TTN) ENSP00000343764.6:p.Glu14869AspfsTer2
ENST00000342992.11:c.44603_44606dup (TTN) ENSP00000343764.6:p.Glu14869AspfsTer2
ENST00000359218.10:c.25487_25490dup (TTN) ENSP00000352154.5:p.Glu8497AspfsTer2
ENST00000359218.9:c.25487_25490dup (TTN) ENSP00000352154.5:p.Glu8497AspfsTer2
ENST00000460472.6:c.25112_25115dup (TTN) ENSP00000434586.1:p.Glu8372AspfsTer2
ENST00000591111.5:c.47384_47387dup (TTN) ENSP00000465570.1:p.Glu15796AspfsTer2
ENST00000615779.4:c.47384_47387dup (TTN) ENSP00000483597.1:p.Glu15796AspfsTer2
XM_011511729.1:c.51404_51407dup (TTN) XP_011510031.1:p.Glu17136AspfsTer2
XM_011511730.1:c.25298_25301dup (TTN) XP_011510032.1:p.Glu8434AspfsTer2
XM_011511731.1:c.25157_25160dup (TTN) XP_011510033.1:p.Glu8387AspfsTer2
XM_017004819.1:c.51200_51203dup (TTN) XP_016860308.1:p.Glu17068AspfsTer2
XM_017004820.1:c.46598_46601dup (TTN) XP_016860309.1:p.Glu15534AspfsTer2
XM_017004821.1:c.46595_46598dup (TTN) XP_016860310.1:p.Glu15533AspfsTer2
XM_017004822.1:c.43637_43640dup (TTN) XP_016860311.1:p.Glu14547AspfsTer2
XM_017004823.1:c.25253_25256dup (TTN) XP_016860312.1:p.Glu8419AspfsTer2
XM_024453094.1:c.46748_46751dup (TTN) XP_024308862.1:p.Glu15584AspfsTer2
XM_024453095.1:c.46745_46748dup (TTN) XP_024308863.1:p.Glu15583AspfsTer2
XM_024453096.1:c.46178_46181dup (TTN) XP_024308864.1:p.Glu15394AspfsTer2
XM_024453097.1:c.43520_43523dup (TTN) XP_024308865.1:p.Glu14508AspfsTer2
XM_024453098.1:c.43439_43442dup (TTN) XP_024308866.1:p.Glu14481AspfsTer2
XM_024453099.1:c.25202_25205dup (TTN) XP_024308867.1:p.Glu8402AspfsTer2
XM_024453100.1:c.15056_15059dup (TTN) XP_024308868.1:p.Glu5020AspfsTer2