Canonical Allele Identifier: CA2662127155

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551638del , CM000664.2:g.178551638del GRCh38
NC_000002.11:g.179416365del , CM000664.1:g.179416365del GRCh37
NC_000002.10:g.179124611del NCBI36
NG_011618.3:g.284165del , LRG_391:g.284165del
NG_051363.1:g.33812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83558del (TTN) ENSP00000343764.6:p.Ser27853PhefsTer3
ENST00000342175.11:c.64643del (TTN) ENSP00000340554.6:p.Ser21548PhefsTer3
ENST00000359218.10:c.64442del (TTN) ENSP00000352154.5:p.Ser21481PhefsTer3
ENST00000342175.10:c.64643del (TTN) ENSP00000340554.6:p.Ser21548PhefsTer3
ENST00000342992.10:c.83558del (TTN) ENSP00000343764.6:p.Ser27853PhefsTer3
ENST00000359218.9:c.64442del (TTN) ENSP00000352154.5:p.Ser21481PhefsTer3
ENST00000460472.6:c.64067del (TTN) ENSP00000434586.1:p.Ser21356PhefsTer3
ENST00000589042.5:c.91262del (TTN) MANE Select ENSP00000467141.1:p.Ser30421PhefsTer3
ENST00000591111.5:c.86339del (TTN) ENSP00000465570.1:p.Ser28780PhefsTer3
ENST00000615779.4:c.86339del (TTN) ENSP00000483597.1:p.Ser28780PhefsTer3
NM_001256850.1:c.86339del (TTN) NP_001243779.1:p.Ser28780PhefsTer3
NM_001267550.2:c.91262del (TTN) MANE Select NP_001254479.2:p.Ser30421PhefsTer3
NM_003319.4:c.64067del (TTN) NP_003310.4:p.Ser21356PhefsTer3
NM_133378.4:c.83558del (TTN) NP_596869.4:p.Ser27853PhefsTer3
NM_133432.3:c.64442del (TTN) NP_597676.3:p.Ser21481PhefsTer3
NM_133437.4:c.64643del (TTN) NP_597681.4:p.Ser21548PhefsTer3
NR_038271.1:n.447-19662del (TTN-AS1)
NR_038272.1:n.2043+9277del (TTN-AS1)
XM_011511729.1:c.90359del (TTN) XP_011510031.1:p.Ser30120PhefsTer3
XM_011511730.1:c.64253del (TTN) XP_011510032.1:p.Ser21418PhefsTer3
XM_011511731.1:c.64112del (TTN) XP_011510033.1:p.Ser21371PhefsTer3
XM_017004819.1:c.90155del (TTN) XP_016860308.1:p.Ser30052PhefsTer3
XM_017004820.1:c.85553del (TTN) XP_016860309.1:p.Ser28518PhefsTer3
XM_017004821.1:c.85550del (TTN) XP_016860310.1:p.Ser28517PhefsTer3
XM_017004822.1:c.82592del (TTN) XP_016860311.1:p.Ser27531PhefsTer3
XM_017004823.1:c.64208del (TTN) XP_016860312.1:p.Ser21403PhefsTer3
XM_024453094.1:c.85703del (TTN) XP_024308862.1:p.Ser28568PhefsTer3
XM_024453095.1:c.85700del (TTN) XP_024308863.1:p.Ser28567PhefsTer3
XM_024453096.1:c.85133del (TTN) XP_024308864.1:p.Ser28378PhefsTer3
XM_024453097.1:c.82475del (TTN) XP_024308865.1:p.Ser27492PhefsTer3
XM_024453098.1:c.82394del (TTN) XP_024308866.1:p.Ser27465PhefsTer3
XM_024453099.1:c.64157del (TTN) XP_024308867.1:p.Ser21386PhefsTer3
XM_024453100.1:c.54011del (TTN) XP_024308868.1:p.Ser18004PhefsTer3