Canonical Allele Identifier: CA1310514618

Linked Data

dbSNP Id: rs1688593309

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530419_178530420del , CM000664.2:g.178530419_178530420del GRCh38
NC_000002.11:g.179395146_179395147del , CM000664.1:g.179395146_179395147del GRCh37
NC_000002.10:g.179103392_179103393del NCBI36
NG_011618.3:g.305383_305384del , LRG_391:g.305383_305384del
NG_051363.1:g.12593_12594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98491_98492del (TTN) ENSP00000343764.6:p.Thr32831HisfsTer2
ENST00000342175.11:c.79576_79577del (TTN) ENSP00000340554.6:p.Thr26526HisfsTer2
ENST00000359218.10:c.79375_79376del (TTN) ENSP00000352154.5:p.Thr26459HisfsTer2
ENST00000342175.10:c.79576_79577del (TTN) ENSP00000340554.6:p.Thr26526HisfsTer2
ENST00000342992.10:c.98491_98492del (TTN) ENSP00000343764.6:p.Thr32831HisfsTer2
ENST00000359218.9:c.79375_79376del (TTN) ENSP00000352154.5:p.Thr26459HisfsTer2
ENST00000460472.6:c.79000_79001del (TTN) ENSP00000434586.1:p.Thr26334HisfsTer2
ENST00000589042.5:c.106195_106196del (TTN) MANE Select ENSP00000467141.1:p.Thr35399HisfsTer2
ENST00000591111.5:c.101272_101273del (TTN) ENSP00000465570.1:p.Thr33758HisfsTer2
ENST00000615779.4:c.101272_101273del (TTN) ENSP00000483597.1:p.Thr33758HisfsTer2
NM_001256850.1:c.101272_101273del (TTN) NP_001243779.1:p.Thr33758HisfsTer2
NM_001267550.2:c.106195_106196del (TTN) MANE Select NP_001254479.2:p.Thr35399HisfsTer2
NM_003319.4:c.79000_79001del (TTN) NP_003310.4:p.Thr26334HisfsTer2
NM_133378.4:c.98491_98492del (TTN) NP_596869.4:p.Thr32831HisfsTer2
NM_133432.3:c.79375_79376del (TTN) NP_597676.3:p.Thr26459HisfsTer2
NM_133437.4:c.79576_79577del (TTN) NP_597681.4:p.Thr26526HisfsTer2
NR_038271.1:n.446+6783_446+6784del (TTN-AS1)
NR_038272.1:n.220-5313_220-5312del (TTN-AS1)
XM_011511729.1:c.105292_105293del (TTN) XP_011510031.1:p.Thr35098HisfsTer2
XM_011511730.1:c.79186_79187del (TTN) XP_011510032.1:p.Thr26396HisfsTer2
XM_011511731.1:c.79045_79046del (TTN) XP_011510033.1:p.Thr26349HisfsTer2
XM_017004819.1:c.105088_105089del (TTN) XP_016860308.1:p.Thr35030HisfsTer2
XM_017004820.1:c.100486_100487del (TTN) XP_016860309.1:p.Thr33496HisfsTer2
XM_017004821.1:c.100483_100484del (TTN) XP_016860310.1:p.Thr33495HisfsTer2
XM_017004822.1:c.97525_97526del (TTN) XP_016860311.1:p.Thr32509HisfsTer2
XM_017004823.1:c.79141_79142del (TTN) XP_016860312.1:p.Thr26381HisfsTer2
XM_024453094.1:c.100636_100637del (TTN) XP_024308862.1:p.Thr33546HisfsTer2
XM_024453095.1:c.100633_100634del (TTN) XP_024308863.1:p.Thr33545HisfsTer2
XM_024453096.1:c.100066_100067del (TTN) XP_024308864.1:p.Thr33356HisfsTer2
XM_024453097.1:c.97408_97409del (TTN) XP_024308865.1:p.Thr32470HisfsTer2
XM_024453098.1:c.97327_97328del (TTN) XP_024308866.1:p.Thr32443HisfsTer2
XM_024453099.1:c.79090_79091del (TTN) XP_024308867.1:p.Thr26364HisfsTer2
XM_024453100.1:c.68944_68945del (TTN) XP_024308868.1:p.Thr22982HisfsTer2