Canonical Allele Identifier: CA141479
Community Standard Title: NM_001267550.2(TTN):c.98299_98300del (p.Arg32767GlyfsTer2)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539765_178539766del , CM000664.2:g.178539765_178539766del GRCh38
NC_000002.11:g.179404492_179404493del , CM000664.1:g.179404492_179404493del GRCh37
NC_000002.10:g.179112738_179112739del NCBI36
NG_011618.3:g.296037_296038del , LRG_391:g.296037_296038del
NG_051363.1:g.21939_21940del

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98299_98300del (TTN) MANE Select NP_001254479.2:p.Arg32767GlyfsTer2
ENST00000589042.5:c.98299_98300del (TTN) MANE Select ENSP00000467141.1:p.Arg32767GlyfsTer2
NM_001256850.1:c.93376_93377del (TTN) NP_001243779.1:p.Arg31126GlyfsTer2
NM_003319.4:c.71104_71105del (TTN) NP_003310.4:p.Arg23702GlyfsTer2
NM_133378.4:c.90595_90596del (TTN) NP_596869.4:p.Arg30199GlyfsTer2
NM_133432.3:c.71479_71480del (TTN) NP_597676.3:p.Arg23827GlyfsTer2
NM_133437.4:c.71680_71681del (TTN) NP_597681.4:p.Arg23894GlyfsTer2
NR_038271.1:n.446+16129_446+16130del (TTN-AS1)
NR_038272.1:n.1715_1716del (TTN-AS1)
ENST00000342175.10:c.71680_71681del (TTN) ENSP00000340554.6:p.Arg23894GlyfsTer2
ENST00000342175.11:c.71680_71681del (TTN) ENSP00000340554.6:p.Arg23894GlyfsTer2
ENST00000342992.10:c.90595_90596del (TTN) ENSP00000343764.6:p.Arg30199GlyfsTer2
ENST00000342992.11:c.90595_90596del (TTN) ENSP00000343764.6:p.Arg30199GlyfsTer2
ENST00000359218.10:c.71479_71480del (TTN) ENSP00000352154.5:p.Arg23827GlyfsTer2
ENST00000359218.9:c.71479_71480del (TTN) ENSP00000352154.5:p.Arg23827GlyfsTer2
ENST00000460472.6:c.71104_71105del (TTN) ENSP00000434586.1:p.Arg23702GlyfsTer2
ENST00000591111.5:c.93376_93377del (TTN) ENSP00000465570.1:p.Arg31126GlyfsTer2
ENST00000615779.4:c.93376_93377del (TTN) ENSP00000483597.1:p.Arg31126GlyfsTer2
XM_011511729.1:c.97396_97397del (TTN) XP_011510031.1:p.Arg32466GlyfsTer2
XM_011511730.1:c.71290_71291del (TTN) XP_011510032.1:p.Arg23764GlyfsTer2
XM_011511731.1:c.71149_71150del (TTN) XP_011510033.1:p.Arg23717GlyfsTer2
XM_017004819.1:c.97192_97193del (TTN) XP_016860308.1:p.Arg32398GlyfsTer2
XM_017004820.1:c.92590_92591del (TTN) XP_016860309.1:p.Arg30864GlyfsTer2
XM_017004821.1:c.92587_92588del (TTN) XP_016860310.1:p.Arg30863GlyfsTer2
XM_017004822.1:c.89629_89630del (TTN) XP_016860311.1:p.Arg29877GlyfsTer2
XM_017004823.1:c.71245_71246del (TTN) XP_016860312.1:p.Arg23749GlyfsTer2
XM_024453094.1:c.92740_92741del (TTN) XP_024308862.1:p.Arg30914GlyfsTer2
XM_024453095.1:c.92737_92738del (TTN) XP_024308863.1:p.Arg30913GlyfsTer2
XM_024453096.1:c.92170_92171del (TTN) XP_024308864.1:p.Arg30724GlyfsTer2
XM_024453097.1:c.89512_89513del (TTN) XP_024308865.1:p.Arg29838GlyfsTer2
XM_024453098.1:c.89431_89432del (TTN) XP_024308866.1:p.Arg29811GlyfsTer2
XM_024453099.1:c.71194_71195del (TTN) XP_024308867.1:p.Arg23732GlyfsTer2
XM_024453100.1:c.61048_61049del (TTN) XP_024308868.1:p.Arg20350GlyfsTer2