Canonical Allele Identifier: CA2753331574

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545469_178545470insTGCAG , CM000664.2:g.178545469_178545470insTGCAG GRCh38
NC_000002.11:g.179410196_179410197insTGCAG , CM000664.1:g.179410196_179410197insTGCAG GRCh37
NC_000002.10:g.179118442_179118443insTGCAG NCBI36
NG_011618.3:g.290333_290334insCTGCA , LRG_391:g.290333_290334insCTGCA
NG_051363.1:g.27643_27644insTGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87936_87937insCTGCA (TTN) ENSP00000343764.6:p.Phe29313LeufsTer5
ENST00000342175.11:c.69021_69022insCTGCA (TTN) ENSP00000340554.6:p.Phe23008LeufsTer5
ENST00000359218.10:c.68820_68821insCTGCA (TTN) ENSP00000352154.5:p.Phe22941LeufsTer5
ENST00000342175.10:c.69021_69022insCTGCA (TTN) ENSP00000340554.6:p.Phe23008LeufsTer5
ENST00000342992.10:c.87936_87937insCTGCA (TTN) ENSP00000343764.6:p.Phe29313LeufsTer5
ENST00000359218.9:c.68820_68821insCTGCA (TTN) ENSP00000352154.5:p.Phe22941LeufsTer5
ENST00000460472.6:c.68445_68446insCTGCA (TTN) ENSP00000434586.1:p.Phe22816LeufsTer5
ENST00000589042.5:c.95640_95641insCTGCA (TTN) MANE Select ENSP00000467141.1:p.Phe31881LeufsTer5
ENST00000591111.5:c.90717_90718insCTGCA (TTN) ENSP00000465570.1:p.Phe30240LeufsTer5
ENST00000615779.4:c.90717_90718insCTGCA (TTN) ENSP00000483597.1:p.Phe30240LeufsTer5
NM_001256850.1:c.90717_90718insCTGCA (TTN) NP_001243779.1:p.Phe30240LeufsTer5
NM_001267550.2:c.95640_95641insCTGCA (TTN) MANE Select NP_001254479.2:p.Phe31881LeufsTer5
NM_003319.4:c.68445_68446insCTGCA (TTN) NP_003310.4:p.Phe22816LeufsTer5
NM_133378.4:c.87936_87937insCTGCA (TTN) NP_596869.4:p.Phe29313LeufsTer5
NM_133432.3:c.68820_68821insCTGCA (TTN) NP_597676.3:p.Phe22941LeufsTer5
NM_133437.4:c.69021_69022insCTGCA (TTN) NP_597681.4:p.Phe23008LeufsTer5
NR_038271.1:n.446+21833_446+21834insTGCAG (TTN-AS1)
NR_038272.1:n.2043+3108_2043+3109insTGCAG (TTN-AS1)
XM_011511729.1:c.94737_94738insCTGCA (TTN) XP_011510031.1:p.Phe31580LeufsTer5
XM_011511730.1:c.68631_68632insCTGCA (TTN) XP_011510032.1:p.Phe22878LeufsTer5
XM_011511731.1:c.68490_68491insCTGCA (TTN) XP_011510033.1:p.Phe22831LeufsTer5
XM_017004819.1:c.94533_94534insCTGCA (TTN) XP_016860308.1:p.Phe31512LeufsTer5
XM_017004820.1:c.89931_89932insCTGCA (TTN) XP_016860309.1:p.Phe29978LeufsTer5
XM_017004821.1:c.89928_89929insCTGCA (TTN) XP_016860310.1:p.Phe29977LeufsTer5
XM_017004822.1:c.86970_86971insCTGCA (TTN) XP_016860311.1:p.Phe28991LeufsTer5
XM_017004823.1:c.68586_68587insCTGCA (TTN) XP_016860312.1:p.Phe22863LeufsTer5
XM_024453094.1:c.90081_90082insCTGCA (TTN) XP_024308862.1:p.Phe30028LeufsTer5
XM_024453095.1:c.90078_90079insCTGCA (TTN) XP_024308863.1:p.Phe30027LeufsTer5
XM_024453096.1:c.89511_89512insCTGCA (TTN) XP_024308864.1:p.Phe29838LeufsTer5
XM_024453097.1:c.86853_86854insCTGCA (TTN) XP_024308865.1:p.Phe28952LeufsTer5
XM_024453098.1:c.86772_86773insCTGCA (TTN) XP_024308866.1:p.Phe28925LeufsTer5
XM_024453099.1:c.68535_68536insCTGCA (TTN) XP_024308867.1:p.Phe22846LeufsTer5
XM_024453100.1:c.58389_58390insCTGCA (TTN) XP_024308868.1:p.Phe19464LeufsTer5