Canonical Allele Identifier: CA16610357

Linked Data

ClinVar Variation Id: 404643
dbSNP Id: rs1060500399

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557374del , CM000664.2:g.178557374del GRCh38
NC_000002.11:g.179422101del , CM000664.1:g.179422101del GRCh37
NC_000002.10:g.179130347del NCBI36
NG_011618.3:g.278429del , LRG_391:g.278429del
NG_051363.1:g.39548del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80184del (TTN) ENSP00000343764.6:p.Phe26729SerfsTer?
ENST00000342175.11:c.61269del (TTN) ENSP00000340554.6:p.Phe20424SerfsTer?
ENST00000359218.10:c.61068del (TTN) ENSP00000352154.5:p.Phe20357SerfsTer?
ENST00000342175.10:c.61269del (TTN) ENSP00000340554.6:p.Phe20424SerfsTer?
ENST00000342992.10:c.80184del (TTN) ENSP00000343764.6:p.Phe26729SerfsTer?
ENST00000359218.9:c.61068del (TTN) ENSP00000352154.5:p.Phe20357SerfsTer?
ENST00000460472.6:c.60693del (TTN) ENSP00000434586.1:p.Phe20232SerfsTer?
ENST00000589042.5:c.87888del (TTN) MANE Select ENSP00000467141.1:p.Phe29297SerfsTer?
ENST00000591111.5:c.82965del (TTN) ENSP00000465570.1:p.Phe27656SerfsTer?
ENST00000615779.4:c.82965del (TTN) ENSP00000483597.1:p.Phe27656SerfsTer?
NM_001256850.1:c.82965del (TTN) NP_001243779.1:p.Phe27656SerfsTer?
NM_001267550.2:c.87888del (TTN) MANE Select NP_001254479.2:p.Phe29297SerfsTer?
NM_003319.4:c.60693del (TTN) NP_003310.4:p.Phe20232SerfsTer?
NM_133378.4:c.80184del (TTN) NP_596869.4:p.Phe26729SerfsTer?
NM_133432.3:c.61068del (TTN) NP_597676.3:p.Phe20357SerfsTer?
NM_133437.4:c.61269del (TTN) NP_597681.4:p.Phe20424SerfsTer?
NR_038271.1:n.447-13926del (TTN-AS1)
NR_038272.1:n.2043+15013del (TTN-AS1)
XM_011511729.1:c.86985del (TTN) XP_011510031.1:p.Phe28996SerfsTer?
XM_011511730.1:c.60879del (TTN) XP_011510032.1:p.Phe20294SerfsTer?
XM_011511731.1:c.60738del (TTN) XP_011510033.1:p.Phe20247SerfsTer?
XM_017004819.1:c.86781del (TTN) XP_016860308.1:p.Phe28928SerfsTer?
XM_017004820.1:c.82179del (TTN) XP_016860309.1:p.Phe27394SerfsTer?
XM_017004821.1:c.82176del (TTN) XP_016860310.1:p.Phe27393SerfsTer?
XM_017004822.1:c.79218del (TTN) XP_016860311.1:p.Phe26407SerfsTer?
XM_017004823.1:c.60834del (TTN) XP_016860312.1:p.Phe20279SerfsTer?
XM_024453094.1:c.82329del (TTN) XP_024308862.1:p.Phe27444SerfsTer?
XM_024453095.1:c.82326del (TTN) XP_024308863.1:p.Phe27443SerfsTer?
XM_024453096.1:c.81759del (TTN) XP_024308864.1:p.Phe27254SerfsTer?
XM_024453097.1:c.79101del (TTN) XP_024308865.1:p.Phe26368SerfsTer?
XM_024453098.1:c.79020del (TTN) XP_024308866.1:p.Phe26341SerfsTer?
XM_024453099.1:c.60783del (TTN) XP_024308867.1:p.Phe20262SerfsTer?
XM_024453100.1:c.50637del (TTN) XP_024308868.1:p.Phe16880SerfsTer?