Canonical Allele Identifier: CA2577171113

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591107_178591111del , CM000664.2:g.178591107_178591111del GRCh38
NC_000002.11:g.179455834_179455838del , CM000664.1:g.179455834_179455838del GRCh37
NC_000002.10:g.179164080_179164084del NCBI36
NG_011618.3:g.244694_244698del , LRG_391:g.244694_244698del
NG_051363.1:g.73281_73285del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52912_52916del (TTN) ENSP00000343764.6:p.Asn17638TyrfsTer3
ENST00000342175.11:c.33997_34001del (TTN) ENSP00000340554.6:p.Asn11333TyrfsTer3
ENST00000359218.10:c.33796_33800del (TTN) ENSP00000352154.5:p.Asn11266TyrfsTer3
ENST00000342175.10:c.33997_34001del (TTN) ENSP00000340554.6:p.Asn11333TyrfsTer3
ENST00000342992.10:c.52912_52916del (TTN) ENSP00000343764.6:p.Asn17638TyrfsTer3
ENST00000359218.9:c.33796_33800del (TTN) ENSP00000352154.5:p.Asn11266TyrfsTer3
ENST00000460472.6:c.33421_33425del (TTN) ENSP00000434586.1:p.Asn11141TyrfsTer3
ENST00000589042.5:c.60616_60620del (TTN) MANE Select ENSP00000467141.1:p.Asn20206TyrfsTer3
ENST00000591111.5:c.55693_55697del (TTN) ENSP00000465570.1:p.Asn18565TyrfsTer3
ENST00000615779.4:c.55693_55697del (TTN) ENSP00000483597.1:p.Asn18565TyrfsTer3
NM_001256850.1:c.55693_55697del (TTN) NP_001243779.1:p.Asn18565TyrfsTer3
NM_001267550.2:c.60616_60620del (TTN) MANE Select NP_001254479.2:p.Asn20206TyrfsTer3
NM_003319.4:c.33421_33425del (TTN) NP_003310.4:p.Asn11141TyrfsTer3
NM_133378.4:c.52912_52916del (TTN) NP_596869.4:p.Asn17638TyrfsTer3
NM_133432.3:c.33796_33800del (TTN) NP_597676.3:p.Asn11266TyrfsTer3
NM_133437.4:c.33997_34001del (TTN) NP_597681.4:p.Asn11333TyrfsTer3
NR_038271.1:n.597-6489_597-6485del (TTN-AS1)
NR_038272.1:n.3189-32_3189-28del (TTN-AS1)
XM_011511729.1:c.59713_59717del (TTN) XP_011510031.1:p.Asn19905TyrfsTer3
XM_011511730.1:c.33607_33611del (TTN) XP_011510032.1:p.Asn11203TyrfsTer3
XM_011511731.1:c.33466_33470del (TTN) XP_011510033.1:p.Asn11156TyrfsTer3
XM_017004819.1:c.59509_59513del (TTN) XP_016860308.1:p.Asn19837TyrfsTer3
XM_017004820.1:c.54907_54911del (TTN) XP_016860309.1:p.Asn18303TyrfsTer3
XM_017004821.1:c.54904_54908del (TTN) XP_016860310.1:p.Asn18302TyrfsTer3
XM_017004822.1:c.51946_51950del (TTN) XP_016860311.1:p.Asn17316TyrfsTer3
XM_017004823.1:c.33562_33566del (TTN) XP_016860312.1:p.Asn11188TyrfsTer3
XM_024453094.1:c.55057_55061del (TTN) XP_024308862.1:p.Asn18353TyrfsTer3
XM_024453095.1:c.55054_55058del (TTN) XP_024308863.1:p.Asn18352TyrfsTer3
XM_024453096.1:c.54487_54491del (TTN) XP_024308864.1:p.Asn18163TyrfsTer3
XM_024453097.1:c.51829_51833del (TTN) XP_024308865.1:p.Asn17277TyrfsTer3
XM_024453098.1:c.51748_51752del (TTN) XP_024308866.1:p.Asn17250TyrfsTer3
XM_024453099.1:c.33511_33515del (TTN) XP_024308867.1:p.Asn11171TyrfsTer3
XM_024453100.1:c.23365_23369del (TTN) XP_024308868.1:p.Asn7789TyrfsTer3