Canonical Allele Identifier: CA2580064580
Community Standard Title: NM_001267550.2(TTN):c.90587dup (p.Glu30197GlyfsTer11)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552314dup , CM000664.2:g.178552314dup GRCh38
NC_000002.11:g.179417041dup , CM000664.1:g.179417041dup GRCh37
NC_000002.10:g.179125287dup NCBI36
NG_011618.3:g.283490dup , LRG_391:g.283490dup
NG_051363.1:g.34488dup

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90587dup (TTN) MANE Select NP_001254479.2:p.Glu30197GlyfsTer11
ENST00000589042.5:c.90587dup (TTN) MANE Select ENSP00000467141.1:p.Glu30197GlyfsTer11
NM_001256850.1:c.85664dup (TTN) NP_001243779.1:p.Glu28556GlyfsTer11
NM_003319.4:c.63392dup (TTN) NP_003310.4:p.Glu21132GlyfsTer11
NM_133378.4:c.82883dup (TTN) NP_596869.4:p.Glu27629GlyfsTer11
NM_133432.3:c.63767dup (TTN) NP_597676.3:p.Glu21257GlyfsTer11
NM_133437.4:c.63968dup (TTN) NP_597681.4:p.Glu21324GlyfsTer11
NR_038271.1:n.447-18986dup (TTN-AS1)
NR_038272.1:n.2043+9953dup (TTN-AS1)
ENST00000342175.10:c.63968dup (TTN) ENSP00000340554.6:p.Glu21324GlyfsTer11
ENST00000342175.11:c.63968dup (TTN) ENSP00000340554.6:p.Glu21324GlyfsTer11
ENST00000342992.10:c.82883dup (TTN) ENSP00000343764.6:p.Glu27629GlyfsTer11
ENST00000342992.11:c.82883dup (TTN) ENSP00000343764.6:p.Glu27629GlyfsTer11
ENST00000359218.10:c.63767dup (TTN) ENSP00000352154.5:p.Glu21257GlyfsTer11
ENST00000359218.9:c.63767dup (TTN) ENSP00000352154.5:p.Glu21257GlyfsTer11
ENST00000460472.6:c.63392dup (TTN) ENSP00000434586.1:p.Glu21132GlyfsTer11
ENST00000591111.5:c.85664dup (TTN) ENSP00000465570.1:p.Glu28556GlyfsTer11
ENST00000615779.4:c.85664dup (TTN) ENSP00000483597.1:p.Glu28556GlyfsTer11
XM_011511729.1:c.89684dup (TTN) XP_011510031.1:p.Glu29896GlyfsTer11
XM_011511730.1:c.63578dup (TTN) XP_011510032.1:p.Glu21194GlyfsTer11
XM_011511731.1:c.63437dup (TTN) XP_011510033.1:p.Glu21147GlyfsTer11
XM_017004819.1:c.89480dup (TTN) XP_016860308.1:p.Glu29828GlyfsTer11
XM_017004820.1:c.84878dup (TTN) XP_016860309.1:p.Glu28294GlyfsTer11
XM_017004821.1:c.84875dup (TTN) XP_016860310.1:p.Glu28293GlyfsTer11
XM_017004822.1:c.81917dup (TTN) XP_016860311.1:p.Glu27307GlyfsTer11
XM_017004823.1:c.63533dup (TTN) XP_016860312.1:p.Glu21179GlyfsTer11
XM_024453094.1:c.85028dup (TTN) XP_024308862.1:p.Glu28344GlyfsTer11
XM_024453095.1:c.85025dup (TTN) XP_024308863.1:p.Glu28343GlyfsTer11
XM_024453096.1:c.84458dup (TTN) XP_024308864.1:p.Glu28154GlyfsTer11
XM_024453097.1:c.81800dup (TTN) XP_024308865.1:p.Glu27268GlyfsTer11
XM_024453098.1:c.81719dup (TTN) XP_024308866.1:p.Glu27241GlyfsTer11
XM_024453099.1:c.63482dup (TTN) XP_024308867.1:p.Glu21162GlyfsTer11
XM_024453100.1:c.53336dup (TTN) XP_024308868.1:p.Glu17780GlyfsTer11