Canonical Allele Identifier: CA261917

Linked Data

ClinVar Variation Id: 47535
dbSNP Id: rs397517758

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547731del , CM000664.2:g.178547731del GRCh38
NC_000002.11:g.179412458del , CM000664.1:g.179412458del GRCh37
NC_000002.10:g.179120704del NCBI36
NG_011618.3:g.288074del , LRG_391:g.288074del
NG_051363.1:g.29905del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.86193del (TTN) ENSP00000343764.6:p.Phe28731LeufsTer14
ENST00000342175.11:c.67278del (TTN) ENSP00000340554.6:p.Phe22426LeufsTer14
ENST00000359218.10:c.67077del (TTN) ENSP00000352154.5:p.Phe22359LeufsTer14
ENST00000342175.10:c.67278del (TTN) ENSP00000340554.6:p.Phe22426LeufsTer14
ENST00000342992.10:c.86193del (TTN) ENSP00000343764.6:p.Phe28731LeufsTer14
ENST00000359218.9:c.67077del (TTN) ENSP00000352154.5:p.Phe22359LeufsTer14
ENST00000460472.6:c.66702del (TTN) ENSP00000434586.1:p.Phe22234LeufsTer14
ENST00000589042.5:c.93897del (TTN) MANE Select ENSP00000467141.1:p.Phe31299LeufsTer14
ENST00000591111.5:c.88974del (TTN) ENSP00000465570.1:p.Phe29658LeufsTer14
ENST00000615779.4:c.88974del (TTN) ENSP00000483597.1:p.Phe29658LeufsTer14
NM_001256850.1:c.88974del (TTN) NP_001243779.1:p.Phe29658LeufsTer14
NM_001267550.2:c.93897del (TTN) MANE Select NP_001254479.2:p.Phe31299LeufsTer14
NM_003319.4:c.66702del (TTN) NP_003310.4:p.Phe22234LeufsTer14
NM_133378.4:c.86193del (TTN) NP_596869.4:p.Phe28731LeufsTer14
NM_133432.3:c.67077del (TTN) NP_597676.3:p.Phe22359LeufsTer14
NM_133437.4:c.67278del (TTN) NP_597681.4:p.Phe22426LeufsTer14
NR_038271.1:n.447-23569del (TTN-AS1)
NR_038272.1:n.2043+5370del (TTN-AS1)
XM_011511729.1:c.92994del (TTN) XP_011510031.1:p.Phe30998LeufsTer14
XM_011511730.1:c.66888del (TTN) XP_011510032.1:p.Phe22296LeufsTer14
XM_011511731.1:c.66747del (TTN) XP_011510033.1:p.Phe22249LeufsTer14
XM_017004819.1:c.92790del (TTN) XP_016860308.1:p.Phe30930LeufsTer14
XM_017004820.1:c.88188del (TTN) XP_016860309.1:p.Phe29396LeufsTer14
XM_017004821.1:c.88185del (TTN) XP_016860310.1:p.Phe29395LeufsTer14
XM_017004822.1:c.85227del (TTN) XP_016860311.1:p.Phe28409LeufsTer14
XM_017004823.1:c.66843del (TTN) XP_016860312.1:p.Phe22281LeufsTer14
XM_024453094.1:c.88338del (TTN) XP_024308862.1:p.Phe29446LeufsTer14
XM_024453095.1:c.88335del (TTN) XP_024308863.1:p.Phe29445LeufsTer14
XM_024453096.1:c.87768del (TTN) XP_024308864.1:p.Phe29256LeufsTer14
XM_024453097.1:c.85110del (TTN) XP_024308865.1:p.Phe28370LeufsTer14
XM_024453098.1:c.85029del (TTN) XP_024308866.1:p.Phe28343LeufsTer14
XM_024453099.1:c.66792del (TTN) XP_024308867.1:p.Phe22264LeufsTer14
XM_024453100.1:c.56646del (TTN) XP_024308868.1:p.Phe18882LeufsTer14