Canonical Allele Identifier: CA2580064875
Community Standard Title: NM_001267550.2(TTN):c.70915delinsAGAAACTGACC (p.Tyr23639ArgfsTer3)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575217delinsGGTCAGTTTCT , CM000664.2:g.178575217delinsGGTCAGTTTCT GRCh38
NC_000002.11:g.179439944delinsGGTCAGTTTCT , CM000664.1:g.179439944delinsGGTCAGTTTCT GRCh37
NC_000002.10:g.179148190delinsGGTCAGTTTCT NCBI36
NG_011618.3:g.260586delinsAGAAACTGACC , LRG_391:g.260586delinsAGAAACTGACC
NG_051363.1:g.57391delinsGGTCAGTTTCT

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70915delinsAGAAACTGACC (TTN) MANE Select NP_001254479.2:p.Tyr23639ArgfsTer3
ENST00000589042.5:c.70915delinsAGAAACTGACC (TTN) MANE Select ENSP00000467141.1:p.Tyr23639ArgfsTer3
NM_001256850.1:c.65992delinsAGAAACTGACC (TTN) NP_001243779.1:p.Tyr21998ArgfsTer3
NM_003319.4:c.43720delinsAGAAACTGACC (TTN) NP_003310.4:p.Tyr14574ArgfsTer3
NM_133378.4:c.63211delinsAGAAACTGACC (TTN) NP_596869.4:p.Tyr21071ArgfsTer3
NM_133432.3:c.44095delinsAGAAACTGACC (TTN) NP_597676.3:p.Tyr14699ArgfsTer3
NM_133437.4:c.44296delinsAGAAACTGACC (TTN) NP_597681.4:p.Tyr14766ArgfsTer3
NR_038271.1:n.596+3768delinsGGTCAGTTTCT (TTN-AS1)
NR_038272.1:n.2044-7355delinsGGTCAGTTTCT (TTN-AS1)
ENST00000342175.10:c.44296delinsAGAAACTGACC (TTN) ENSP00000340554.6:p.Tyr14766ArgfsTer3
ENST00000342175.11:c.44296delinsAGAAACTGACC (TTN) ENSP00000340554.6:p.Tyr14766ArgfsTer3
ENST00000342992.10:c.63211delinsAGAAACTGACC (TTN) ENSP00000343764.6:p.Tyr21071ArgfsTer3
ENST00000342992.11:c.63211delinsAGAAACTGACC (TTN) ENSP00000343764.6:p.Tyr21071ArgfsTer3
ENST00000359218.10:c.44095delinsAGAAACTGACC (TTN) ENSP00000352154.5:p.Tyr14699ArgfsTer3
ENST00000359218.9:c.44095delinsAGAAACTGACC (TTN) ENSP00000352154.5:p.Tyr14699ArgfsTer3
ENST00000460472.6:c.43720delinsAGAAACTGACC (TTN) ENSP00000434586.1:p.Tyr14574ArgfsTer3
ENST00000591111.5:c.65992delinsAGAAACTGACC (TTN) ENSP00000465570.1:p.Tyr21998ArgfsTer3
ENST00000615779.4:c.65992delinsAGAAACTGACC (TTN) ENSP00000483597.1:p.Tyr21998ArgfsTer3
XM_011511729.1:c.70012delinsAGAAACTGACC (TTN) XP_011510031.1:p.Tyr23338ArgfsTer3
XM_011511730.1:c.43906delinsAGAAACTGACC (TTN) XP_011510032.1:p.Tyr14636ArgfsTer3
XM_011511731.1:c.43765delinsAGAAACTGACC (TTN) XP_011510033.1:p.Tyr14589ArgfsTer3
XM_017004819.1:c.69808delinsAGAAACTGACC (TTN) XP_016860308.1:p.Tyr23270ArgfsTer3
XM_017004820.1:c.65206delinsAGAAACTGACC (TTN) XP_016860309.1:p.Tyr21736ArgfsTer3
XM_017004821.1:c.65203delinsAGAAACTGACC (TTN) XP_016860310.1:p.Tyr21735ArgfsTer3
XM_017004822.1:c.62245delinsAGAAACTGACC (TTN) XP_016860311.1:p.Tyr20749ArgfsTer3
XM_017004823.1:c.43861delinsAGAAACTGACC (TTN) XP_016860312.1:p.Tyr14621ArgfsTer3
XM_024453094.1:c.65356delinsAGAAACTGACC (TTN) XP_024308862.1:p.Tyr21786ArgfsTer3
XM_024453095.1:c.65353delinsAGAAACTGACC (TTN) XP_024308863.1:p.Tyr21785ArgfsTer3
XM_024453096.1:c.64786delinsAGAAACTGACC (TTN) XP_024308864.1:p.Tyr21596ArgfsTer3
XM_024453097.1:c.62128delinsAGAAACTGACC (TTN) XP_024308865.1:p.Tyr20710ArgfsTer3
XM_024453098.1:c.62047delinsAGAAACTGACC (TTN) XP_024308866.1:p.Tyr20683ArgfsTer3
XM_024453099.1:c.43810delinsAGAAACTGACC (TTN) XP_024308867.1:p.Tyr14604ArgfsTer3
XM_024453100.1:c.33664delinsAGAAACTGACC (TTN) XP_024308868.1:p.Tyr11222ArgfsTer3