Canonical Allele Identifier: CA16617345

Linked Data

ClinVar Variation Id: 421760
ClinVar RCV Id: RCV002526607
dbSNP Id: rs1064795346

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563940del , CM000664.2:g.178563940del GRCh38
NC_000002.11:g.179428667del , CM000664.1:g.179428667del GRCh37
NC_000002.10:g.179136913del NCBI36
NG_011618.3:g.271864del , LRG_391:g.271864del
NG_051363.1:g.46114del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.74489del (TTN) ENSP00000343764.6:p.Gly24830ValfsTer?
ENST00000342175.11:c.55574del (TTN) ENSP00000340554.6:p.Gly18525ValfsTer?
ENST00000359218.10:c.55373del (TTN) ENSP00000352154.5:p.Gly18458ValfsTer?
ENST00000342175.10:c.55574del (TTN) ENSP00000340554.6:p.Gly18525ValfsTer?
ENST00000342992.10:c.74489del (TTN) ENSP00000343764.6:p.Gly24830ValfsTer?
ENST00000359218.9:c.55373del (TTN) ENSP00000352154.5:p.Gly18458ValfsTer?
ENST00000460472.6:c.54998del (TTN) ENSP00000434586.1:p.Gly18333ValfsTer?
ENST00000589042.5:c.82193del (TTN) MANE Select ENSP00000467141.1:p.Gly27398ValfsTer?
ENST00000591111.5:c.77270del (TTN) ENSP00000465570.1:p.Gly25757ValfsTer?
ENST00000615779.4:c.77270del (TTN) ENSP00000483597.1:p.Gly25757ValfsTer?
NM_001256850.1:c.77270del (TTN) NP_001243779.1:p.Gly25757ValfsTer?
NM_001267550.2:c.82193del (TTN) MANE Select NP_001254479.2:p.Gly27398ValfsTer?
NM_003319.4:c.54998del (TTN) NP_003310.4:p.Gly18333ValfsTer?
NM_133378.4:c.74489del (TTN) NP_596869.4:p.Gly24830ValfsTer?
NM_133432.3:c.55373del (TTN) NP_597676.3:p.Gly18458ValfsTer?
NM_133437.4:c.55574del (TTN) NP_597681.4:p.Gly18525ValfsTer?
NR_038271.1:n.447-7360del (TTN-AS1)
NR_038272.1:n.2044-18632del (TTN-AS1)
XM_011511729.1:c.81290del (TTN) XP_011510031.1:p.Gly27097ValfsTer?
XM_011511730.1:c.55184del (TTN) XP_011510032.1:p.Gly18395ValfsTer?
XM_011511731.1:c.55043del (TTN) XP_011510033.1:p.Gly18348ValfsTer?
XM_017004819.1:c.81086del (TTN) XP_016860308.1:p.Gly27029ValfsTer?
XM_017004820.1:c.76484del (TTN) XP_016860309.1:p.Gly25495ValfsTer?
XM_017004821.1:c.76481del (TTN) XP_016860310.1:p.Gly25494ValfsTer?
XM_017004822.1:c.73523del (TTN) XP_016860311.1:p.Gly24508ValfsTer?
XM_017004823.1:c.55139del (TTN) XP_016860312.1:p.Gly18380ValfsTer?
XM_024453094.1:c.76634del (TTN) XP_024308862.1:p.Gly25545ValfsTer?
XM_024453095.1:c.76631del (TTN) XP_024308863.1:p.Gly25544ValfsTer?
XM_024453096.1:c.76064del (TTN) XP_024308864.1:p.Gly25355ValfsTer?
XM_024453097.1:c.73406del (TTN) XP_024308865.1:p.Gly24469ValfsTer?
XM_024453098.1:c.73325del (TTN) XP_024308866.1:p.Gly24442ValfsTer?
XM_024453099.1:c.55088del (TTN) XP_024308867.1:p.Gly18363ValfsTer?
XM_024453100.1:c.44942del (TTN) XP_024308868.1:p.Gly14981ValfsTer?