Canonical Allele Identifier: CA2753330763

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530500_178530503dup , CM000664.2:g.178530500_178530503dup GRCh38
NC_000002.11:g.179395227_179395230dup , CM000664.1:g.179395227_179395230dup GRCh37
NC_000002.10:g.179103473_179103476dup NCBI36
NG_011618.3:g.305302_305305dup , LRG_391:g.305302_305305dup
NG_051363.1:g.12674_12677dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98410_98413dup (TTN) ENSP00000343764.6:p.Gln32805LeufsTer9
ENST00000342175.11:c.79495_79498dup (TTN) ENSP00000340554.6:p.Gln26500LeufsTer9
ENST00000359218.10:c.79294_79297dup (TTN) ENSP00000352154.5:p.Gln26433LeufsTer9
ENST00000342175.10:c.79495_79498dup (TTN) ENSP00000340554.6:p.Gln26500LeufsTer9
ENST00000342992.10:c.98410_98413dup (TTN) ENSP00000343764.6:p.Gln32805LeufsTer9
ENST00000359218.9:c.79294_79297dup (TTN) ENSP00000352154.5:p.Gln26433LeufsTer9
ENST00000460472.6:c.78919_78922dup (TTN) ENSP00000434586.1:p.Gln26308LeufsTer9
ENST00000589042.5:c.106114_106117dup (TTN) MANE Select ENSP00000467141.1:p.Gln35373LeufsTer9
ENST00000591111.5:c.101191_101194dup (TTN) ENSP00000465570.1:p.Gln33732LeufsTer9
ENST00000615779.4:c.101191_101194dup (TTN) ENSP00000483597.1:p.Gln33732LeufsTer9
NM_001256850.1:c.101191_101194dup (TTN) NP_001243779.1:p.Gln33732LeufsTer9
NM_001267550.2:c.106114_106117dup (TTN) MANE Select NP_001254479.2:p.Gln35373LeufsTer9
NM_003319.4:c.78919_78922dup (TTN) NP_003310.4:p.Gln26308LeufsTer9
NM_133378.4:c.98410_98413dup (TTN) NP_596869.4:p.Gln32805LeufsTer9
NM_133432.3:c.79294_79297dup (TTN) NP_597676.3:p.Gln26433LeufsTer9
NM_133437.4:c.79495_79498dup (TTN) NP_597681.4:p.Gln26500LeufsTer9
NR_038271.1:n.446+6864_446+6867dup (TTN-AS1)
NR_038272.1:n.220-5232_220-5229dup (TTN-AS1)
XM_011511729.1:c.105211_105214dup (TTN) XP_011510031.1:p.Gln35072LeufsTer9
XM_011511730.1:c.79105_79108dup (TTN) XP_011510032.1:p.Gln26370LeufsTer9
XM_011511731.1:c.78964_78967dup (TTN) XP_011510033.1:p.Gln26323LeufsTer9
XM_017004819.1:c.105007_105010dup (TTN) XP_016860308.1:p.Gln35004LeufsTer9
XM_017004820.1:c.100405_100408dup (TTN) XP_016860309.1:p.Gln33470LeufsTer9
XM_017004821.1:c.100402_100405dup (TTN) XP_016860310.1:p.Gln33469LeufsTer9
XM_017004822.1:c.97444_97447dup (TTN) XP_016860311.1:p.Gln32483LeufsTer9
XM_017004823.1:c.79060_79063dup (TTN) XP_016860312.1:p.Gln26355LeufsTer9
XM_024453094.1:c.100555_100558dup (TTN) XP_024308862.1:p.Gln33520LeufsTer9
XM_024453095.1:c.100552_100555dup (TTN) XP_024308863.1:p.Gln33519LeufsTer9
XM_024453096.1:c.99985_99988dup (TTN) XP_024308864.1:p.Gln33330LeufsTer9
XM_024453097.1:c.97327_97330dup (TTN) XP_024308865.1:p.Gln32444LeufsTer9
XM_024453098.1:c.97246_97249dup (TTN) XP_024308866.1:p.Gln32417LeufsTer9
XM_024453099.1:c.79009_79012dup (TTN) XP_024308867.1:p.Gln26338LeufsTer9
XM_024453100.1:c.68863_68866dup (TTN) XP_024308868.1:p.Gln22956LeufsTer9