Canonical Allele Identifier: CA2740095950

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2946983
• ClinVar RCV Id: RCV003801173

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530617_178530618del , CM000664.2:g.178530617_178530618del	GRCh38
NC_000002.11:g.179395344_179395345del , CM000664.1:g.179395344_179395345del	GRCh37
NC_000002.10:g.179103590_179103591del	NCBI36
NG_011618.3:g.305185_305186del , LRG_391:g.305185_305186del
NG_051363.1:g.12791_12792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98293_98294del (TTN)	ENSP00000343764.6:p.Gln32765ValfsTer10
ENST00000342175.11:c.79378_79379del (TTN)	ENSP00000340554.6:p.Gln26460ValfsTer10
ENST00000359218.10:c.79177_79178del (TTN)	ENSP00000352154.5:p.Gln26393ValfsTer10
ENST00000342175.10:c.79378_79379del (TTN)	ENSP00000340554.6:p.Gln26460ValfsTer10
ENST00000342992.10:c.98293_98294del (TTN)	ENSP00000343764.6:p.Gln32765ValfsTer10
ENST00000359218.9:c.79177_79178del (TTN)	ENSP00000352154.5:p.Gln26393ValfsTer10
ENST00000460472.6:c.78802_78803del (TTN)	ENSP00000434586.1:p.Gln26268ValfsTer10
ENST00000589042.5:c.105997_105998del (TTN) MANE Select	ENSP00000467141.1:p.Gln35333ValfsTer10
ENST00000591111.5:c.101074_101075del (TTN)	ENSP00000465570.1:p.Gln33692ValfsTer10
ENST00000615779.4:c.101074_101075del (TTN)	ENSP00000483597.1:p.Gln33692ValfsTer10
NM_001256850.1:c.101074_101075del (TTN)	NP_001243779.1:p.Gln33692ValfsTer10
NM_001267550.2:c.105997_105998del (TTN) MANE Select	NP_001254479.2:p.Gln35333ValfsTer10
NM_003319.4:c.78802_78803del (TTN)	NP_003310.4:p.Gln26268ValfsTer10
NM_133378.4:c.98293_98294del (TTN)	NP_596869.4:p.Gln32765ValfsTer10
NM_133432.3:c.79177_79178del (TTN)	NP_597676.3:p.Gln26393ValfsTer10
NM_133437.4:c.79378_79379del (TTN)	NP_597681.4:p.Gln26460ValfsTer10
NR_038271.1:n.446+6981_446+6982del (TTN-AS1)
NR_038272.1:n.220-5115_220-5114del (TTN-AS1)
XM_011511729.1:c.105094_105095del (TTN)	XP_011510031.1:p.Gln35032ValfsTer10
XM_011511730.1:c.78988_78989del (TTN)	XP_011510032.1:p.Gln26330ValfsTer10
XM_011511731.1:c.78847_78848del (TTN)	XP_011510033.1:p.Gln26283ValfsTer10
XM_017004819.1:c.104890_104891del (TTN)	XP_016860308.1:p.Gln34964ValfsTer10
XM_017004820.1:c.100288_100289del (TTN)	XP_016860309.1:p.Gln33430ValfsTer10
XM_017004821.1:c.100285_100286del (TTN)	XP_016860310.1:p.Gln33429ValfsTer10
XM_017004822.1:c.97327_97328del (TTN)	XP_016860311.1:p.Gln32443ValfsTer10
XM_017004823.1:c.78943_78944del (TTN)	XP_016860312.1:p.Gln26315ValfsTer10
XM_024453094.1:c.100438_100439del (TTN)	XP_024308862.1:p.Gln33480ValfsTer10
XM_024453095.1:c.100435_100436del (TTN)	XP_024308863.1:p.Gln33479ValfsTer10
XM_024453096.1:c.99868_99869del (TTN)	XP_024308864.1:p.Gln33290ValfsTer10
XM_024453097.1:c.97210_97211del (TTN)	XP_024308865.1:p.Gln32404ValfsTer10
XM_024453098.1:c.97129_97130del (TTN)	XP_024308866.1:p.Gln32377ValfsTer10
XM_024453099.1:c.78892_78893del (TTN)	XP_024308867.1:p.Gln26298ValfsTer10
XM_024453100.1:c.68746_68747del (TTN)	XP_024308868.1:p.Gln22916ValfsTer10