Canonical Allele Identifier: CA916081366
Community Standard Title: NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611569_178611572dup , CM000664.2:g.178611569_178611572dup GRCh38
NC_000002.11:g.179476296_179476299dup , CM000664.1:g.179476296_179476299dup GRCh37
NC_000002.10:g.179184541_179184544dup NCBI36
NG_011618.3:g.224231_224234dup , LRG_391:g.224231_224234dup
NG_051363.1:g.93743_93746dup

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50657_50660dup (TTN) MANE Select NP_001254479.2:p.Tyr16887Ter
ENST00000589042.5:c.50657_50660dup (TTN) MANE Select ENSP00000467141.1:p.Tyr16887Ter
NM_001256850.1:c.45734_45737dup (TTN) NP_001243779.1:p.Tyr15246Ter
NM_003319.4:c.23462_23465dup (TTN) NP_003310.4:p.Tyr7822Ter
NM_133378.4:c.42953_42956dup (TTN) NP_596869.4:p.Tyr14319Ter
NM_133432.3:c.23837_23840dup (TTN) NP_597676.3:p.Tyr7947Ter
NM_133437.4:c.24038_24041dup (TTN) NP_597681.4:p.Tyr8014Ter
NR_038271.1:n.783-2466_783-2463dup (TTN-AS1)
ENST00000342175.10:c.24038_24041dup (TTN) ENSP00000340554.6:p.Tyr8014Ter
ENST00000342175.11:c.24038_24041dup (TTN) ENSP00000340554.6:p.Tyr8014Ter
ENST00000342992.10:c.42953_42956dup (TTN) ENSP00000343764.6:p.Tyr14319Ter
ENST00000342992.11:c.42953_42956dup (TTN) ENSP00000343764.6:p.Tyr14319Ter
ENST00000359218.10:c.23837_23840dup (TTN) ENSP00000352154.5:p.Tyr7947Ter
ENST00000359218.9:c.23837_23840dup (TTN) ENSP00000352154.5:p.Tyr7947Ter
ENST00000460472.6:c.23462_23465dup (TTN) ENSP00000434586.1:p.Tyr7822Ter
ENST00000591111.5:c.45734_45737dup (TTN) ENSP00000465570.1:p.Tyr15246Ter
ENST00000615779.4:c.45734_45737dup (TTN) ENSP00000483597.1:p.Tyr15246Ter
XM_011511729.1:c.49754_49757dup (TTN) XP_011510031.1:p.Tyr16586Ter
XM_011511730.1:c.23648_23651dup (TTN) XP_011510032.1:p.Tyr7884Ter
XM_011511731.1:c.23507_23510dup (TTN) XP_011510033.1:p.Tyr7837Ter
XM_017004819.1:c.49550_49553dup (TTN) XP_016860308.1:p.Tyr16518Ter
XM_017004820.1:c.44948_44951dup (TTN) XP_016860309.1:p.Tyr14984Ter
XM_017004821.1:c.44945_44948dup (TTN) XP_016860310.1:p.Tyr14983Ter
XM_017004822.1:c.41987_41990dup (TTN) XP_016860311.1:p.Tyr13997Ter
XM_017004823.1:c.23603_23606dup (TTN) XP_016860312.1:p.Tyr7869Ter
XM_024453094.1:c.45098_45101dup (TTN) XP_024308862.1:p.Tyr15034Ter
XM_024453095.1:c.45095_45098dup (TTN) XP_024308863.1:p.Tyr15033Ter
XM_024453096.1:c.44528_44531dup (TTN) XP_024308864.1:p.Tyr14844Ter
XM_024453097.1:c.41870_41873dup (TTN) XP_024308865.1:p.Tyr13958Ter
XM_024453098.1:c.41789_41792dup (TTN) XP_024308866.1:p.Tyr13931Ter
XM_024453099.1:c.23552_23555dup (TTN) XP_024308867.1:p.Tyr7852Ter
XM_024453100.1:c.13406_13409dup (TTN) XP_024308868.1:p.Tyr4470Ter