Canonical Allele Identifier: CA2017999288

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530071del , CM000664.2:g.178530071del GRCh38
NC_000002.11:g.179394798del , CM000664.1:g.179394798del GRCh37
NC_000002.10:g.179103044del NCBI36
NG_011618.3:g.305734del , LRG_391:g.305734del
NG_051363.1:g.12245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98718del (TTN) ENSP00000343764.6:p.Phe32907SerfsTer3
ENST00000342175.11:c.79803del (TTN) ENSP00000340554.6:p.Phe26602SerfsTer3
ENST00000359218.10:c.79602del (TTN) ENSP00000352154.5:p.Phe26535SerfsTer3
ENST00000342175.10:c.79803del (TTN) ENSP00000340554.6:p.Phe26602SerfsTer3
ENST00000342992.10:c.98718del (TTN) ENSP00000343764.6:p.Phe32907SerfsTer3
ENST00000359218.9:c.79602del (TTN) ENSP00000352154.5:p.Phe26535SerfsTer3
ENST00000460472.6:c.79227del (TTN) ENSP00000434586.1:p.Phe26410SerfsTer3
ENST00000589042.5:c.106422del (TTN) MANE Select ENSP00000467141.1:p.Phe35475SerfsTer3
ENST00000591111.5:c.101499del (TTN) ENSP00000465570.1:p.Phe33834SerfsTer3
ENST00000615779.4:c.101499del (TTN) ENSP00000483597.1:p.Phe33834SerfsTer3
NM_001256850.1:c.101499del (TTN) NP_001243779.1:p.Phe33834SerfsTer3
NM_001267550.2:c.106422del (TTN) MANE Select NP_001254479.2:p.Phe35475SerfsTer3
NM_003319.4:c.79227del (TTN) NP_003310.4:p.Phe26410SerfsTer3
NM_133378.4:c.98718del (TTN) NP_596869.4:p.Phe32907SerfsTer3
NM_133432.3:c.79602del (TTN) NP_597676.3:p.Phe26535SerfsTer3
NM_133437.4:c.79803del (TTN) NP_597681.4:p.Phe26602SerfsTer3
NR_038271.1:n.446+6435del (TTN-AS1)
NR_038272.1:n.220-5661del (TTN-AS1)
XM_011511729.1:c.105519del (TTN) XP_011510031.1:p.Phe35174SerfsTer3
XM_011511730.1:c.79413del (TTN) XP_011510032.1:p.Phe26472SerfsTer3
XM_011511731.1:c.79272del (TTN) XP_011510033.1:p.Phe26425SerfsTer3
XM_017004819.1:c.105315del (TTN) XP_016860308.1:p.Phe35106SerfsTer3
XM_017004820.1:c.100713del (TTN) XP_016860309.1:p.Phe33572SerfsTer3
XM_017004821.1:c.100710del (TTN) XP_016860310.1:p.Phe33571SerfsTer3
XM_017004822.1:c.97752del (TTN) XP_016860311.1:p.Phe32585SerfsTer3
XM_017004823.1:c.79368del (TTN) XP_016860312.1:p.Phe26457SerfsTer3
XM_024453094.1:c.100863del (TTN) XP_024308862.1:p.Phe33622SerfsTer3
XM_024453095.1:c.100860del (TTN) XP_024308863.1:p.Phe33621SerfsTer3
XM_024453096.1:c.100293del (TTN) XP_024308864.1:p.Phe33432SerfsTer3
XM_024453097.1:c.97635del (TTN) XP_024308865.1:p.Phe32546SerfsTer3
XM_024453098.1:c.97554del (TTN) XP_024308866.1:p.Phe32519SerfsTer3
XM_024453099.1:c.79317del (TTN) XP_024308867.1:p.Phe26440SerfsTer3
XM_024453100.1:c.69171del (TTN) XP_024308868.1:p.Phe23058SerfsTer3