Canonical Allele Identifier: CA261853
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46947
dbSNP Id: rs397517565

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178635715del , CM000664.2:g.178635715del GRCh38
NC_000002.11:g.179500442del , CM000664.1:g.179500442del GRCh37
NC_000002.10:g.179208687del NCBI36
NG_011618.3:g.200089del , LRG_391:g.200089del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.33906del ENSP00000343764.6:p.Val11303SerfsTer7
ENST00000342175.11:c.14991del ENSP00000340554.6:p.Val4998SerfsTer7
ENST00000359218.10:c.14790del ENSP00000352154.5:p.Val4931SerfsTer7
ENST00000342175.10:c.14991del ENSP00000340554.6:p.Val4998SerfsTer7
ENST00000342992.10:c.33906del ENSP00000343764.6:p.Val11303SerfsTer7
ENST00000359218.9:c.14790del ENSP00000352154.5:p.Val4931SerfsTer7
ENST00000460472.6:c.14415del ENSP00000434586.1:p.Val4806SerfsTer7
ENST00000589042.5:c.41610del MANE Select ENSP00000467141.1:p.Val13871SerfsTer7
ENST00000591111.5:c.36687del ENSP00000465570.1:p.Val12230SerfsTer7
ENST00000615779.4:c.36687del ENSP00000483597.1:p.Val12230SerfsTer7
NM_001256850.1:c.36687del NP_001243779.1:p.Val12230SerfsTer7
NM_001267550.2:c.41610del MANE Select NP_001254479.2:p.Val13871SerfsTer7
NM_003319.4:c.14415del NP_003310.4:p.Val4806SerfsTer7
NM_133378.4:c.33906del NP_596869.4:p.Val11303SerfsTer7
NM_133432.3:c.14790del NP_597676.3:p.Val4931SerfsTer7
NM_133437.4:c.14991del NP_597681.4:p.Val4998SerfsTer7
XM_011511729.1:c.40707del XP_011510031.1:p.Val13570SerfsTer7
XM_011511730.1:c.14601del XP_011510032.1:p.Val4868SerfsTer7
XM_011511731.1:c.14460del XP_011510033.1:p.Val4821SerfsTer7
XM_017004819.1:c.40503del XP_016860308.1:p.Val13502SerfsTer7
XM_017004820.1:c.35901del XP_016860309.1:p.Val11968SerfsTer7
XM_017004821.1:c.35898del XP_016860310.1:p.Val11967SerfsTer7
XM_017004822.1:c.32940del XP_016860311.1:p.Val10981SerfsTer7
XM_017004823.1:c.14556del XP_016860312.1:p.Val4853SerfsTer7
XM_024453094.1:c.36051del XP_024308862.1:p.Val12018SerfsTer7
XM_024453095.1:c.36048del XP_024308863.1:p.Val12017SerfsTer7
XM_024453096.1:c.35481del XP_024308864.1:p.Val11828SerfsTer7
XM_024453097.1:c.32823del XP_024308865.1:p.Val10942SerfsTer7
XM_024453098.1:c.32742del XP_024308866.1:p.Val10915SerfsTer7
XM_024453099.1:c.14505del XP_024308867.1:p.Val4836SerfsTer7
XM_024453100.1:c.4359del XP_024308868.1:p.Val1454SerfsTer7