Canonical Allele Identifier: CA2973049244

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614660_178614669del , CM000664.2:g.178614660_178614669del GRCh38
NC_000002.11:g.179479387_179479396del , CM000664.1:g.179479387_179479396del GRCh37
NC_000002.10:g.179187632_179187641del NCBI36
NG_011618.3:g.221134_221143del , LRG_391:g.221134_221143del
NG_051363.1:g.96834_96843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41141_41150del (TTN) ENSP00000343764.6:p.Val13714AspfsTer6
ENST00000342175.11:c.22226_22235del (TTN) ENSP00000340554.6:p.Val7409AspfsTer6
ENST00000359218.10:c.22025_22034del (TTN) ENSP00000352154.5:p.Val7342AspfsTer6
ENST00000342175.10:c.22226_22235del (TTN) ENSP00000340554.6:p.Val7409AspfsTer6
ENST00000342992.10:c.41141_41150del (TTN) ENSP00000343764.6:p.Val13714AspfsTer6
ENST00000359218.9:c.22025_22034del (TTN) ENSP00000352154.5:p.Val7342AspfsTer6
ENST00000460472.6:c.21650_21659del (TTN) ENSP00000434586.1:p.Val7217AspfsTer6
ENST00000589042.5:c.48845_48854del (TTN) MANE Select ENSP00000467141.1:p.Val16282AspfsTer6
ENST00000591111.5:c.43922_43931del (TTN) ENSP00000465570.1:p.Val14641AspfsTer6
ENST00000615779.4:c.43922_43931del (TTN) ENSP00000483597.1:p.Val14641AspfsTer6
NM_001256850.1:c.43922_43931del (TTN) NP_001243779.1:p.Val14641AspfsTer6
NM_001267550.2:c.48845_48854del (TTN) MANE Select NP_001254479.2:p.Val16282AspfsTer6
NM_003319.4:c.21650_21659del (TTN) NP_003310.4:p.Val7217AspfsTer6
NM_133378.4:c.41141_41150del (TTN) NP_596869.4:p.Val13714AspfsTer6
NM_133432.3:c.22025_22034del (TTN) NP_597676.3:p.Val7342AspfsTer6
NM_133437.4:c.22226_22235del (TTN) NP_597681.4:p.Val7409AspfsTer6
NR_038271.1:n.1408_1417del (TTN-AS1)
XM_011511729.1:c.47942_47951del (TTN) XP_011510031.1:p.Val15981AspfsTer6
XM_011511730.1:c.21836_21845del (TTN) XP_011510032.1:p.Val7279AspfsTer6
XM_011511731.1:c.21695_21704del (TTN) XP_011510033.1:p.Val7232AspfsTer6
XM_017004819.1:c.47738_47747del (TTN) XP_016860308.1:p.Val15913AspfsTer6
XM_017004820.1:c.43136_43145del (TTN) XP_016860309.1:p.Val14379AspfsTer6
XM_017004821.1:c.43133_43142del (TTN) XP_016860310.1:p.Val14378AspfsTer6
XM_017004822.1:c.40175_40184del (TTN) XP_016860311.1:p.Val13392AspfsTer6
XM_017004823.1:c.21791_21800del (TTN) XP_016860312.1:p.Val7264AspfsTer6
XM_024453094.1:c.43286_43295del (TTN) XP_024308862.1:p.Val14429AspfsTer6
XM_024453095.1:c.43283_43292del (TTN) XP_024308863.1:p.Val14428AspfsTer6
XM_024453096.1:c.42716_42725del (TTN) XP_024308864.1:p.Val14239AspfsTer6
XM_024453097.1:c.40058_40067del (TTN) XP_024308865.1:p.Val13353AspfsTer6
XM_024453098.1:c.39977_39986del (TTN) XP_024308866.1:p.Val13326AspfsTer6
XM_024453099.1:c.21740_21749del (TTN) XP_024308867.1:p.Val7247AspfsTer6
XM_024453100.1:c.11594_11603del (TTN) XP_024308868.1:p.Val3865AspfsTer6