Canonical Allele Identifier: CA2553087767

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557801_178557802insGG , CM000664.2:g.178557801_178557802insGG GRCh38
NC_000002.11:g.179422528_179422529insGG , CM000664.1:g.179422528_179422529insGG GRCh37
NC_000002.10:g.179130774_179130775insGG NCBI36
NG_011618.3:g.278001_278002insCC , LRG_391:g.278001_278002insCC
NG_051363.1:g.39975_39976insGG

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79848_79849insCC (TTN) ENSP00000343764.6:p.Trp26617ProfsTer13
ENST00000342175.11:c.60933_60934insCC (TTN) ENSP00000340554.6:p.Trp20312ProfsTer13
ENST00000359218.10:c.60732_60733insCC (TTN) ENSP00000352154.5:p.Trp20245ProfsTer13
ENST00000342175.10:c.60933_60934insCC (TTN) ENSP00000340554.6:p.Trp20312ProfsTer13
ENST00000342992.10:c.79848_79849insCC (TTN) ENSP00000343764.6:p.Trp26617ProfsTer13
ENST00000359218.9:c.60732_60733insCC (TTN) ENSP00000352154.5:p.Trp20245ProfsTer13
ENST00000460472.6:c.60357_60358insCC (TTN) ENSP00000434586.1:p.Trp20120ProfsTer13
ENST00000589042.5:c.87552_87553insCC (TTN) MANE Select ENSP00000467141.1:p.Trp29185ProfsTer13
ENST00000591111.5:c.82629_82630insCC (TTN) ENSP00000465570.1:p.Trp27544ProfsTer13
ENST00000615779.4:c.82629_82630insCC (TTN) ENSP00000483597.1:p.Trp27544ProfsTer13
NM_001256850.1:c.82629_82630insCC (TTN) NP_001243779.1:p.Trp27544ProfsTer13
NM_001267550.2:c.87552_87553insCC (TTN) MANE Select NP_001254479.2:p.Trp29185ProfsTer13
NM_003319.4:c.60357_60358insCC (TTN) NP_003310.4:p.Trp20120ProfsTer13
NM_133378.4:c.79848_79849insCC (TTN) NP_596869.4:p.Trp26617ProfsTer13
NM_133432.3:c.60732_60733insCC (TTN) NP_597676.3:p.Trp20245ProfsTer13
NM_133437.4:c.60933_60934insCC (TTN) NP_597681.4:p.Trp20312ProfsTer13
NR_038271.1:n.447-13499_447-13498insGG (TTN-AS1)
NR_038272.1:n.2043+15440_2043+15441insGG (TTN-AS1)
XM_011511729.1:c.86649_86650insCC (TTN) XP_011510031.1:p.Trp28884ProfsTer13
XM_011511730.1:c.60543_60544insCC (TTN) XP_011510032.1:p.Trp20182ProfsTer13
XM_011511731.1:c.60402_60403insCC (TTN) XP_011510033.1:p.Trp20135ProfsTer13
XM_017004819.1:c.86445_86446insCC (TTN) XP_016860308.1:p.Trp28816ProfsTer13
XM_017004820.1:c.81843_81844insCC (TTN) XP_016860309.1:p.Trp27282ProfsTer13
XM_017004821.1:c.81840_81841insCC (TTN) XP_016860310.1:p.Trp27281ProfsTer13
XM_017004822.1:c.78882_78883insCC (TTN) XP_016860311.1:p.Trp26295ProfsTer13
XM_017004823.1:c.60498_60499insCC (TTN) XP_016860312.1:p.Trp20167ProfsTer13
XM_024453094.1:c.81993_81994insCC (TTN) XP_024308862.1:p.Trp27332ProfsTer13
XM_024453095.1:c.81990_81991insCC (TTN) XP_024308863.1:p.Trp27331ProfsTer13
XM_024453096.1:c.81423_81424insCC (TTN) XP_024308864.1:p.Trp27142ProfsTer13
XM_024453097.1:c.78765_78766insCC (TTN) XP_024308865.1:p.Trp26256ProfsTer13
XM_024453098.1:c.78684_78685insCC (TTN) XP_024308866.1:p.Trp26229ProfsTer13
XM_024453099.1:c.60447_60448insCC (TTN) XP_024308867.1:p.Trp20150ProfsTer13
XM_024453100.1:c.50301_50302insCC (TTN) XP_024308868.1:p.Trp16768ProfsTer13