Canonical Allele Identifier: CA309433

Linked Data

ClinVar Variation Id: 202470
dbSNP Id: rs794729343

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569033dup , CM000664.2:g.178569033dup GRCh38
NC_000002.11:g.179433760dup , CM000664.1:g.179433760dup GRCh37
NC_000002.10:g.179142006dup NCBI36
NG_011618.3:g.266771dup , LRG_391:g.266771dup
NG_051363.1:g.51207dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69396dup (TTN) ENSP00000343764.6:p.Pro23133ThrfsTer9
ENST00000342175.11:c.50481dup (TTN) ENSP00000340554.6:p.Pro16828ThrfsTer9
ENST00000359218.10:c.50280dup (TTN) ENSP00000352154.5:p.Pro16761ThrfsTer9
ENST00000342175.10:c.50481dup (TTN) ENSP00000340554.6:p.Pro16828ThrfsTer9
ENST00000342992.10:c.69396dup (TTN) ENSP00000343764.6:p.Pro23133ThrfsTer9
ENST00000359218.9:c.50280dup (TTN) ENSP00000352154.5:p.Pro16761ThrfsTer9
ENST00000460472.6:c.49905dup (TTN) ENSP00000434586.1:p.Pro16636ThrfsTer9
ENST00000589042.5:c.77100dup (TTN) MANE Select ENSP00000467141.1:p.Pro25701ThrfsTer9
ENST00000591111.5:c.72177dup (TTN) ENSP00000465570.1:p.Pro24060ThrfsTer9
ENST00000615779.4:c.72177dup (TTN) ENSP00000483597.1:p.Pro24060ThrfsTer9
NM_001256850.1:c.72177dup (TTN) NP_001243779.1:p.Pro24060ThrfsTer9
NM_001267550.2:c.77100dup (TTN) MANE Select NP_001254479.2:p.Pro25701ThrfsTer9
NM_003319.4:c.49905dup (TTN) NP_003310.4:p.Pro16636ThrfsTer9
NM_133378.4:c.69396dup (TTN) NP_596869.4:p.Pro23133ThrfsTer9
NM_133432.3:c.50280dup (TTN) NP_597676.3:p.Pro16761ThrfsTer9
NM_133437.4:c.50481dup (TTN) NP_597681.4:p.Pro16828ThrfsTer9
NR_038271.1:n.447-2267dup (TTN-AS1)
NR_038272.1:n.2044-13539dup (TTN-AS1)
XM_011511729.1:c.76197dup (TTN) XP_011510031.1:p.Pro25400ThrfsTer9
XM_011511730.1:c.50091dup (TTN) XP_011510032.1:p.Pro16698ThrfsTer9
XM_011511731.1:c.49950dup (TTN) XP_011510033.1:p.Pro16651ThrfsTer9
XM_017004819.1:c.75993dup (TTN) XP_016860308.1:p.Pro25332ThrfsTer9
XM_017004820.1:c.71391dup (TTN) XP_016860309.1:p.Pro23798ThrfsTer9
XM_017004821.1:c.71388dup (TTN) XP_016860310.1:p.Pro23797ThrfsTer9
XM_017004822.1:c.68430dup (TTN) XP_016860311.1:p.Pro22811ThrfsTer9
XM_017004823.1:c.50046dup (TTN) XP_016860312.1:p.Pro16683ThrfsTer9
XM_024453094.1:c.71541dup (TTN) XP_024308862.1:p.Pro23848ThrfsTer9
XM_024453095.1:c.71538dup (TTN) XP_024308863.1:p.Pro23847ThrfsTer9
XM_024453096.1:c.70971dup (TTN) XP_024308864.1:p.Pro23658ThrfsTer9
XM_024453097.1:c.68313dup (TTN) XP_024308865.1:p.Pro22772ThrfsTer9
XM_024453098.1:c.68232dup (TTN) XP_024308866.1:p.Pro22745ThrfsTer9
XM_024453099.1:c.49995dup (TTN) XP_024308867.1:p.Pro16666ThrfsTer9
XM_024453100.1:c.39849dup (TTN) XP_024308868.1:p.Pro13284ThrfsTer9