Canonical Allele Identifier: CA1310579796
Gene: TTN HGNC NCBI

Linked Data

dbSNP Id: rs2071462681

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178688544_178688547del , CM000664.2:g.178688544_178688547del GRCh38
NC_000002.11:g.179553271_179553274del , CM000664.1:g.179553271_179553274del GRCh37
NC_000002.10:g.179261516_179261519del NCBI36
NG_011618.3:g.147256_147259del , LRG_391:g.147256_147259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.28465+130_28465+133del ENSP00000343764.6:n.28465+130_28465+133del
ENST00000342175.11:c.13859-46230_13859-46227del ENSP00000340554.6:n.13859-46230_13859-46227del
ENST00000359218.10:c.13658-46230_13658-46227del ENSP00000352154.5:n.13658-46230_13658-46227del
ENST00000342175.10:c.13859-46230_13859-46227del ENSP00000340554.6:n.13859-46230_13859-46227del
ENST00000342992.10:c.28465+130_28465+133del ENSP00000343764.6:n.28465+130_28465+133del
ENST00000359218.9:c.13658-46230_13658-46227del ENSP00000352154.5:n.13658-46230_13658-46227del
ENST00000414766.5:c.1729+506_1729+509del ENSP00000401501.1:n.1729+506_1729+509del
ENST00000460472.6:c.13283-46230_13283-46227del ENSP00000434586.1:n.13283-46230_13283-46227del
ENST00000589042.5:c.32197+130_32197+133del MANE Select ENSP00000467141.1:n.32197+130_32197+133del
ENST00000591111.5:c.31246+130_31246+133del ENSP00000465570.1:n.31246+130_31246+133del
ENST00000615779.4:c.31246+130_31246+133del ENSP00000483597.1:n.31246+130_31246+133del
NM_001256850.1:c.31246+130_31246+133del NP_001243779.1:n.31246+130_31246+133del
NM_001267550.2:c.32197+130_32197+133del MANE Select NP_001254479.2:n.32197+130_32197+133del
NM_003319.4:c.13283-46230_13283-46227del NP_003310.4:n.13283-46230_13283-46227del
NM_133378.4:c.28465+130_28465+133del NP_596869.4:n.28465+130_28465+133del
NM_133432.3:c.13658-46230_13658-46227del NP_597676.3:n.13658-46230_13658-46227del
NM_133437.4:c.13859-46230_13859-46227del NP_597681.4:n.13859-46230_13859-46227del
XM_011511729.1:c.31294+130_31294+133del XP_011510031.1:n.31294+130_31294+133del
XM_011511730.1:c.13469-46230_13469-46227del XP_011510032.1:n.13469-46230_13469-46227del
XM_011511731.1:c.13328-46230_13328-46227del XP_011510033.1:n.13328-46230_13328-46227del
XM_017004819.1:c.31249+130_31249+133del XP_016860308.1:n.31249+130_31249+133del
XM_017004820.1:c.28468+130_28468+133del XP_016860309.1:n.28468+130_28468+133del
XM_017004821.1:c.28465+130_28465+133del XP_016860310.1:n.28465+130_28465+133del
XM_017004822.1:c.31147+506_31147+509del XP_016860311.1:n.31147+506_31147+509del
XM_017004823.1:c.13424-46230_13424-46227del XP_016860312.1:n.13424-46230_13424-46227del
XM_024453094.1:c.31249+130_31249+133del XP_024308862.1:n.31249+130_31249+133del
XM_024453095.1:c.31249+130_31249+133del XP_024308863.1:n.31249+130_31249+133del
XM_024453096.1:c.31249+130_31249+133del XP_024308864.1:n.31249+130_31249+133del
XM_024453097.1:c.30898+1266_30898+1269del XP_024308865.1:n.30898+1266_30898+1269del
XM_024453098.1:c.30898+1266_30898+1269del XP_024308866.1:n.30898+1266_30898+1269del
XM_024453099.1:c.13424-46230_13424-46227del XP_024308867.1:n.13424-46230_13424-46227del