Canonical Allele Identifier: CA2577170437

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543319_178543320del , CM000664.2:g.178543319_178543320del GRCh38
NC_000002.11:g.179408046_179408047del , CM000664.1:g.179408046_179408047del GRCh37
NC_000002.10:g.179116292_179116293del NCBI36
NG_011618.3:g.292483_292484del , LRG_391:g.292483_292484del
NG_051363.1:g.25493_25494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88949_88950del (TTN) ENSP00000343764.6:p.Thr29650SerfsTer14
ENST00000342175.11:c.70034_70035del (TTN) ENSP00000340554.6:p.Thr23345SerfsTer14
ENST00000359218.10:c.69833_69834del (TTN) ENSP00000352154.5:p.Thr23278SerfsTer14
ENST00000342175.10:c.70034_70035del (TTN) ENSP00000340554.6:p.Thr23345SerfsTer14
ENST00000342992.10:c.88949_88950del (TTN) ENSP00000343764.6:p.Thr29650SerfsTer14
ENST00000359218.9:c.69833_69834del (TTN) ENSP00000352154.5:p.Thr23278SerfsTer14
ENST00000460472.6:c.69458_69459del (TTN) ENSP00000434586.1:p.Thr23153SerfsTer14
ENST00000589042.5:c.96653_96654del (TTN) MANE Select ENSP00000467141.1:p.Thr32218SerfsTer14
ENST00000591111.5:c.91730_91731del (TTN) ENSP00000465570.1:p.Thr30577SerfsTer14
ENST00000615779.4:c.91730_91731del (TTN) ENSP00000483597.1:p.Thr30577SerfsTer14
NM_001256850.1:c.91730_91731del (TTN) NP_001243779.1:p.Thr30577SerfsTer14
NM_001267550.2:c.96653_96654del (TTN) MANE Select NP_001254479.2:p.Thr32218SerfsTer14
NM_003319.4:c.69458_69459del (TTN) NP_003310.4:p.Thr23153SerfsTer14
NM_133378.4:c.88949_88950del (TTN) NP_596869.4:p.Thr29650SerfsTer14
NM_133432.3:c.69833_69834del (TTN) NP_597676.3:p.Thr23278SerfsTer14
NM_133437.4:c.70034_70035del (TTN) NP_597681.4:p.Thr23345SerfsTer14
NR_038271.1:n.446+19683_446+19684del (TTN-AS1)
NR_038272.1:n.2043+958_2043+959del (TTN-AS1)
XM_011511729.1:c.95750_95751del (TTN) XP_011510031.1:p.Thr31917SerfsTer14
XM_011511730.1:c.69644_69645del (TTN) XP_011510032.1:p.Thr23215SerfsTer14
XM_011511731.1:c.69503_69504del (TTN) XP_011510033.1:p.Thr23168SerfsTer14
XM_017004819.1:c.95546_95547del (TTN) XP_016860308.1:p.Thr31849SerfsTer14
XM_017004820.1:c.90944_90945del (TTN) XP_016860309.1:p.Thr30315SerfsTer14
XM_017004821.1:c.90941_90942del (TTN) XP_016860310.1:p.Thr30314SerfsTer14
XM_017004822.1:c.87983_87984del (TTN) XP_016860311.1:p.Thr29328SerfsTer14
XM_017004823.1:c.69599_69600del (TTN) XP_016860312.1:p.Thr23200SerfsTer14
XM_024453094.1:c.91094_91095del (TTN) XP_024308862.1:p.Thr30365SerfsTer14
XM_024453095.1:c.91091_91092del (TTN) XP_024308863.1:p.Thr30364SerfsTer14
XM_024453096.1:c.90524_90525del (TTN) XP_024308864.1:p.Thr30175SerfsTer14
XM_024453097.1:c.87866_87867del (TTN) XP_024308865.1:p.Thr29289SerfsTer14
XM_024453098.1:c.87785_87786del (TTN) XP_024308866.1:p.Thr29262SerfsTer14
XM_024453099.1:c.69548_69549del (TTN) XP_024308867.1:p.Thr23183SerfsTer14
XM_024453100.1:c.59402_59403del (TTN) XP_024308868.1:p.Thr19801SerfsTer14