Canonical Allele Identifier: CA2753333586

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566266_178566270del , CM000664.2:g.178566266_178566270del GRCh38
NC_000002.11:g.179430993_179430997del , CM000664.1:g.179430993_179430997del GRCh37
NC_000002.10:g.179139239_179139243del NCBI36
NG_011618.3:g.269533_269537del , LRG_391:g.269533_269537del
NG_051363.1:g.48440_48444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.72158_72162del (TTN) ENSP00000343764.6:p.Thr24053ArgfsTer10
ENST00000342175.11:c.53243_53247del (TTN) ENSP00000340554.6:p.Thr17748ArgfsTer10
ENST00000359218.10:c.53042_53046del (TTN) ENSP00000352154.5:p.Thr17681ArgfsTer10
ENST00000342175.10:c.53243_53247del (TTN) ENSP00000340554.6:p.Thr17748ArgfsTer10
ENST00000342992.10:c.72158_72162del (TTN) ENSP00000343764.6:p.Thr24053ArgfsTer10
ENST00000359218.9:c.53042_53046del (TTN) ENSP00000352154.5:p.Thr17681ArgfsTer10
ENST00000460472.6:c.52667_52671del (TTN) ENSP00000434586.1:p.Thr17556ArgfsTer10
ENST00000589042.5:c.79862_79866del (TTN) MANE Select ENSP00000467141.1:p.Thr26621ArgfsTer10
ENST00000591111.5:c.74939_74943del (TTN) ENSP00000465570.1:p.Thr24980ArgfsTer10
ENST00000615779.4:c.74939_74943del (TTN) ENSP00000483597.1:p.Thr24980ArgfsTer10
NM_001256850.1:c.74939_74943del (TTN) NP_001243779.1:p.Thr24980ArgfsTer10
NM_001267550.2:c.79862_79866del (TTN) MANE Select NP_001254479.2:p.Thr26621ArgfsTer10
NM_003319.4:c.52667_52671del (TTN) NP_003310.4:p.Thr17556ArgfsTer10
NM_133378.4:c.72158_72162del (TTN) NP_596869.4:p.Thr24053ArgfsTer10
NM_133432.3:c.53042_53046del (TTN) NP_597676.3:p.Thr17681ArgfsTer10
NM_133437.4:c.53243_53247del (TTN) NP_597681.4:p.Thr17748ArgfsTer10
NR_038271.1:n.447-5034_447-5030del (TTN-AS1)
NR_038272.1:n.2044-16306_2044-16302del (TTN-AS1)
XM_011511729.1:c.78959_78963del (TTN) XP_011510031.1:p.Thr26320ArgfsTer10
XM_011511730.1:c.52853_52857del (TTN) XP_011510032.1:p.Thr17618ArgfsTer10
XM_011511731.1:c.52712_52716del (TTN) XP_011510033.1:p.Thr17571ArgfsTer10
XM_017004819.1:c.78755_78759del (TTN) XP_016860308.1:p.Thr26252ArgfsTer10
XM_017004820.1:c.74153_74157del (TTN) XP_016860309.1:p.Thr24718ArgfsTer10
XM_017004821.1:c.74150_74154del (TTN) XP_016860310.1:p.Thr24717ArgfsTer10
XM_017004822.1:c.71192_71196del (TTN) XP_016860311.1:p.Thr23731ArgfsTer10
XM_017004823.1:c.52808_52812del (TTN) XP_016860312.1:p.Thr17603ArgfsTer10
XM_024453094.1:c.74303_74307del (TTN) XP_024308862.1:p.Thr24768ArgfsTer10
XM_024453095.1:c.74300_74304del (TTN) XP_024308863.1:p.Thr24767ArgfsTer10
XM_024453096.1:c.73733_73737del (TTN) XP_024308864.1:p.Thr24578ArgfsTer10
XM_024453097.1:c.71075_71079del (TTN) XP_024308865.1:p.Thr23692ArgfsTer10
XM_024453098.1:c.70994_70998del (TTN) XP_024308866.1:p.Thr23665ArgfsTer10
XM_024453099.1:c.52757_52761del (TTN) XP_024308867.1:p.Thr17586ArgfsTer10
XM_024453100.1:c.42611_42615del (TTN) XP_024308868.1:p.Thr14204ArgfsTer10