Canonical Allele Identifier: CA273253
Community Standard Title: NM_001267550.2(TTN):c.81886del (p.Glu27296LysfsTer?)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564246del , CM000664.2:g.178564246del GRCh38
NC_000002.11:g.179428973del , CM000664.1:g.179428973del GRCh37
NC_000002.10:g.179137219del NCBI36
NG_011618.3:g.271557del , LRG_391:g.271557del
NG_051363.1:g.46420del

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81886del (TTN) MANE Select NP_001254479.2:p.Glu27296LysfsTer?
ENST00000589042.5:c.81886del (TTN) MANE Select ENSP00000467141.1:p.Glu27296LysfsTer?
NM_001256850.1:c.76963del (TTN) NP_001243779.1:p.Glu25655LysfsTer?
NM_003319.4:c.54691del (TTN) NP_003310.4:p.Glu18231LysfsTer?
NM_133378.4:c.74182del (TTN) NP_596869.4:p.Glu24728LysfsTer?
NM_133432.3:c.55066del (TTN) NP_597676.3:p.Glu18356LysfsTer?
NM_133437.4:c.55267del (TTN) NP_597681.4:p.Glu18423LysfsTer?
NR_038271.1:n.447-7054del (TTN-AS1)
NR_038272.1:n.2044-18326del (TTN-AS1)
ENST00000342175.10:c.55267del (TTN) ENSP00000340554.6:p.Glu18423LysfsTer?
ENST00000342175.11:c.55267del (TTN) ENSP00000340554.6:p.Glu18423LysfsTer?
ENST00000342992.10:c.74182del (TTN) ENSP00000343764.6:p.Glu24728LysfsTer?
ENST00000342992.11:c.74182del (TTN) ENSP00000343764.6:p.Glu24728LysfsTer?
ENST00000359218.10:c.55066del (TTN) ENSP00000352154.5:p.Glu18356LysfsTer?
ENST00000359218.9:c.55066del (TTN) ENSP00000352154.5:p.Glu18356LysfsTer?
ENST00000460472.6:c.54691del (TTN) ENSP00000434586.1:p.Glu18231LysfsTer?
ENST00000591111.5:c.76963del (TTN) ENSP00000465570.1:p.Glu25655LysfsTer?
ENST00000615779.4:c.76963del (TTN) ENSP00000483597.1:p.Glu25655LysfsTer?
XM_011511729.1:c.80983del (TTN) XP_011510031.1:p.Glu26995LysfsTer?
XM_011511730.1:c.54877del (TTN) XP_011510032.1:p.Glu18293LysfsTer?
XM_011511731.1:c.54736del (TTN) XP_011510033.1:p.Glu18246LysfsTer?
XM_017004819.1:c.80779del (TTN) XP_016860308.1:p.Glu26927LysfsTer?
XM_017004820.1:c.76177del (TTN) XP_016860309.1:p.Glu25393LysfsTer?
XM_017004821.1:c.76174del (TTN) XP_016860310.1:p.Glu25392LysfsTer?
XM_017004822.1:c.73216del (TTN) XP_016860311.1:p.Glu24406LysfsTer?
XM_017004823.1:c.54832del (TTN) XP_016860312.1:p.Glu18278LysfsTer?
XM_024453094.1:c.76327del (TTN) XP_024308862.1:p.Glu25443LysfsTer?
XM_024453095.1:c.76324del (TTN) XP_024308863.1:p.Glu25442LysfsTer?
XM_024453096.1:c.75757del (TTN) XP_024308864.1:p.Glu25253LysfsTer?
XM_024453097.1:c.73099del (TTN) XP_024308865.1:p.Glu24367LysfsTer?
XM_024453098.1:c.73018del (TTN) XP_024308866.1:p.Glu24340LysfsTer?
XM_024453099.1:c.54781del (TTN) XP_024308867.1:p.Glu18261LysfsTer?
XM_024453100.1:c.44635del (TTN) XP_024308868.1:p.Glu14879LysfsTer?