Canonical Allele Identifier: CA2662123921

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544332del , CM000664.2:g.178544332del GRCh38
NC_000002.11:g.179409059del , CM000664.1:g.179409059del GRCh37
NC_000002.10:g.179117305del NCBI36
NG_011618.3:g.291471del , LRG_391:g.291471del
NG_051363.1:g.26506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88193del (TTN) ENSP00000343764.6:p.Arg29398LysfsTer23
ENST00000342175.11:c.69278del (TTN) ENSP00000340554.6:p.Arg23093LysfsTer23
ENST00000359218.10:c.69077del (TTN) ENSP00000352154.5:p.Arg23026LysfsTer23
ENST00000342175.10:c.69278del (TTN) ENSP00000340554.6:p.Arg23093LysfsTer23
ENST00000342992.10:c.88193del (TTN) ENSP00000343764.6:p.Arg29398LysfsTer23
ENST00000359218.9:c.69077del (TTN) ENSP00000352154.5:p.Arg23026LysfsTer23
ENST00000460472.6:c.68702del (TTN) ENSP00000434586.1:p.Arg22901LysfsTer23
ENST00000589042.5:c.95897del (TTN) MANE Select ENSP00000467141.1:p.Arg31966LysfsTer23
ENST00000591111.5:c.90974del (TTN) ENSP00000465570.1:p.Arg30325LysfsTer23
ENST00000615779.4:c.90974del (TTN) ENSP00000483597.1:p.Arg30325LysfsTer23
NM_001256850.1:c.90974del (TTN) NP_001243779.1:p.Arg30325LysfsTer23
NM_001267550.2:c.95897del (TTN) MANE Select NP_001254479.2:p.Arg31966LysfsTer23
NM_003319.4:c.68702del (TTN) NP_003310.4:p.Arg22901LysfsTer23
NM_133378.4:c.88193del (TTN) NP_596869.4:p.Arg29398LysfsTer23
NM_133432.3:c.69077del (TTN) NP_597676.3:p.Arg23026LysfsTer23
NM_133437.4:c.69278del (TTN) NP_597681.4:p.Arg23093LysfsTer23
NR_038271.1:n.446+20696del (TTN-AS1)
NR_038272.1:n.2043+1971del (TTN-AS1)
XM_011511729.1:c.94994del (TTN) XP_011510031.1:p.Arg31665LysfsTer23
XM_011511730.1:c.68888del (TTN) XP_011510032.1:p.Arg22963LysfsTer23
XM_011511731.1:c.68747del (TTN) XP_011510033.1:p.Arg22916LysfsTer23
XM_017004819.1:c.94790del (TTN) XP_016860308.1:p.Arg31597LysfsTer23
XM_017004820.1:c.90188del (TTN) XP_016860309.1:p.Arg30063LysfsTer23
XM_017004821.1:c.90185del (TTN) XP_016860310.1:p.Arg30062LysfsTer23
XM_017004822.1:c.87227del (TTN) XP_016860311.1:p.Arg29076LysfsTer23
XM_017004823.1:c.68843del (TTN) XP_016860312.1:p.Arg22948LysfsTer23
XM_024453094.1:c.90338del (TTN) XP_024308862.1:p.Arg30113LysfsTer23
XM_024453095.1:c.90335del (TTN) XP_024308863.1:p.Arg30112LysfsTer23
XM_024453096.1:c.89768del (TTN) XP_024308864.1:p.Arg29923LysfsTer23
XM_024453097.1:c.87110del (TTN) XP_024308865.1:p.Arg29037LysfsTer23
XM_024453098.1:c.87029del (TTN) XP_024308866.1:p.Arg29010LysfsTer23
XM_024453099.1:c.68792del (TTN) XP_024308867.1:p.Arg22931LysfsTer23
XM_024453100.1:c.58646del (TTN) XP_024308868.1:p.Arg19549LysfsTer23