Canonical Allele Identifier: CA2580064864
Community Standard Title: NM_001267550.2(TTN):c.103638dup (p.Lys34547GlnfsTer3)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532977dup , CM000664.2:g.178532977dup GRCh38
NC_000002.11:g.179397704dup , CM000664.1:g.179397704dup GRCh37
NC_000002.10:g.179105950dup NCBI36
NG_011618.3:g.302826dup , LRG_391:g.302826dup
NG_051363.1:g.15151dup

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103638dup (TTN) MANE Select NP_001254479.2:p.Lys34547GlnfsTer3
ENST00000589042.5:c.103638dup (TTN) MANE Select ENSP00000467141.1:p.Lys34547GlnfsTer3
NM_001256850.1:c.98715dup (TTN) NP_001243779.1:p.Lys32906GlnfsTer3
NM_003319.4:c.76443dup (TTN) NP_003310.4:p.Lys25482GlnfsTer3
NM_133378.4:c.95934dup (TTN) NP_596869.4:p.Lys31979GlnfsTer3
NM_133432.3:c.76818dup (TTN) NP_597676.3:p.Lys25607GlnfsTer3
NM_133437.4:c.77019dup (TTN) NP_597681.4:p.Lys25674GlnfsTer3
NR_038271.1:n.446+9341dup (TTN-AS1)
NR_038272.1:n.220-2755dup (TTN-AS1)
ENST00000342175.10:c.77019dup (TTN) ENSP00000340554.6:p.Lys25674GlnfsTer3
ENST00000342175.11:c.77019dup (TTN) ENSP00000340554.6:p.Lys25674GlnfsTer3
ENST00000342992.10:c.95934dup (TTN) ENSP00000343764.6:p.Lys31979GlnfsTer3
ENST00000342992.11:c.95934dup (TTN) ENSP00000343764.6:p.Lys31979GlnfsTer3
ENST00000359218.10:c.76818dup (TTN) ENSP00000352154.5:p.Lys25607GlnfsTer3
ENST00000359218.9:c.76818dup (TTN) ENSP00000352154.5:p.Lys25607GlnfsTer3
ENST00000460472.6:c.76443dup (TTN) ENSP00000434586.1:p.Lys25482GlnfsTer3
ENST00000591111.5:c.98715dup (TTN) ENSP00000465570.1:p.Lys32906GlnfsTer3
ENST00000615779.4:c.98715dup (TTN) ENSP00000483597.1:p.Lys32906GlnfsTer3
XM_011511729.1:c.102735dup (TTN) XP_011510031.1:p.Lys34246GlnfsTer3
XM_011511730.1:c.76629dup (TTN) XP_011510032.1:p.Lys25544GlnfsTer3
XM_011511731.1:c.76488dup (TTN) XP_011510033.1:p.Lys25497GlnfsTer3
XM_017004819.1:c.102531dup (TTN) XP_016860308.1:p.Lys34178GlnfsTer3
XM_017004820.1:c.97929dup (TTN) XP_016860309.1:p.Lys32644GlnfsTer3
XM_017004821.1:c.97926dup (TTN) XP_016860310.1:p.Lys32643GlnfsTer3
XM_017004822.1:c.94968dup (TTN) XP_016860311.1:p.Lys31657GlnfsTer3
XM_017004823.1:c.76584dup (TTN) XP_016860312.1:p.Lys25529GlnfsTer3
XM_024453094.1:c.98079dup (TTN) XP_024308862.1:p.Lys32694GlnfsTer3
XM_024453095.1:c.98076dup (TTN) XP_024308863.1:p.Lys32693GlnfsTer3
XM_024453096.1:c.97509dup (TTN) XP_024308864.1:p.Lys32504GlnfsTer3
XM_024453097.1:c.94851dup (TTN) XP_024308865.1:p.Lys31618GlnfsTer3
XM_024453098.1:c.94770dup (TTN) XP_024308866.1:p.Lys31591GlnfsTer3
XM_024453099.1:c.76533dup (TTN) XP_024308867.1:p.Lys25512GlnfsTer3
XM_024453100.1:c.66387dup (TTN) XP_024308868.1:p.Lys22130GlnfsTer3