Canonical Allele Identifier: CA2580614487

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589142_178589145dup , CM000664.2:g.178589142_178589145dup GRCh38
NC_000002.11:g.179453869_179453872dup , CM000664.1:g.179453869_179453872dup GRCh37
NC_000002.10:g.179162115_179162118dup NCBI36
NG_011618.3:g.246659_246662dup , LRG_391:g.246659_246662dup
NG_051363.1:g.71316_71319dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.54877_54880dup (TTN) ENSP00000343764.6:p.Leu18294CysfsTer4
ENST00000342175.11:c.35962_35965dup (TTN) ENSP00000340554.6:p.Leu11989CysfsTer4
ENST00000359218.10:c.35761_35764dup (TTN) ENSP00000352154.5:p.Leu11922CysfsTer4
ENST00000342175.10:c.35962_35965dup (TTN) ENSP00000340554.6:p.Leu11989CysfsTer4
ENST00000342992.10:c.54877_54880dup (TTN) ENSP00000343764.6:p.Leu18294CysfsTer4
ENST00000359218.9:c.35761_35764dup (TTN) ENSP00000352154.5:p.Leu11922CysfsTer4
ENST00000460472.6:c.35386_35389dup (TTN) ENSP00000434586.1:p.Leu11797CysfsTer4
ENST00000589042.5:c.62581_62584dup (TTN) MANE Select ENSP00000467141.1:p.Leu20862CysfsTer4
ENST00000591111.5:c.57658_57661dup (TTN) ENSP00000465570.1:p.Leu19221CysfsTer4
ENST00000615779.4:c.57658_57661dup (TTN) ENSP00000483597.1:p.Leu19221CysfsTer4
NM_001256850.1:c.57658_57661dup (TTN) NP_001243779.1:p.Leu19221CysfsTer4
NM_001267550.2:c.62581_62584dup (TTN) MANE Select NP_001254479.2:p.Leu20862CysfsTer4
NM_003319.4:c.35386_35389dup (TTN) NP_003310.4:p.Leu11797CysfsTer4
NM_133378.4:c.54877_54880dup (TTN) NP_596869.4:p.Leu18294CysfsTer4
NM_133432.3:c.35761_35764dup (TTN) NP_597676.3:p.Leu11922CysfsTer4
NM_133437.4:c.35962_35965dup (TTN) NP_597681.4:p.Leu11989CysfsTer4
NR_038271.1:n.597-8454_597-8451dup (TTN-AS1)
NR_038272.1:n.3189-1997_3189-1994dup (TTN-AS1)
XM_011511729.1:c.61678_61681dup (TTN) XP_011510031.1:p.Leu20561CysfsTer4
XM_011511730.1:c.35572_35575dup (TTN) XP_011510032.1:p.Leu11859CysfsTer4
XM_011511731.1:c.35431_35434dup (TTN) XP_011510033.1:p.Leu11812CysfsTer4
XM_017004819.1:c.61474_61477dup (TTN) XP_016860308.1:p.Leu20493CysfsTer4
XM_017004820.1:c.56872_56875dup (TTN) XP_016860309.1:p.Leu18959CysfsTer4
XM_017004821.1:c.56869_56872dup (TTN) XP_016860310.1:p.Leu18958CysfsTer4
XM_017004822.1:c.53911_53914dup (TTN) XP_016860311.1:p.Leu17972CysfsTer4
XM_017004823.1:c.35527_35530dup (TTN) XP_016860312.1:p.Leu11844CysfsTer4
XM_024453094.1:c.57022_57025dup (TTN) XP_024308862.1:p.Leu19009CysfsTer4
XM_024453095.1:c.57019_57022dup (TTN) XP_024308863.1:p.Leu19008CysfsTer4
XM_024453096.1:c.56452_56455dup (TTN) XP_024308864.1:p.Leu18819CysfsTer4
XM_024453097.1:c.53794_53797dup (TTN) XP_024308865.1:p.Leu17933CysfsTer4
XM_024453098.1:c.53713_53716dup (TTN) XP_024308866.1:p.Leu17906CysfsTer4
XM_024453099.1:c.35476_35479dup (TTN) XP_024308867.1:p.Leu11827CysfsTer4
XM_024453100.1:c.25330_25333dup (TTN) XP_024308868.1:p.Leu8445CysfsTer4