Canonical Allele Identifier: CA2662125860

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530514-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530515dup , CM000664.2:g.178530515dup	GRCh38
NC_000002.11:g.179395242dup , CM000664.1:g.179395242dup	GRCh37
NC_000002.10:g.179103488dup	NCBI36
NG_011618.3:g.305288dup , LRG_391:g.305288dup
NG_051363.1:g.12689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98396dup (TTN)	ENSP00000343764.6:p.Ser32800ValfsTer2
ENST00000342175.11:c.79481dup (TTN)	ENSP00000340554.6:p.Ser26495ValfsTer2
ENST00000359218.10:c.79280dup (TTN)	ENSP00000352154.5:p.Ser26428ValfsTer2
ENST00000342175.10:c.79481dup (TTN)	ENSP00000340554.6:p.Ser26495ValfsTer2
ENST00000342992.10:c.98396dup (TTN)	ENSP00000343764.6:p.Ser32800ValfsTer2
ENST00000359218.9:c.79280dup (TTN)	ENSP00000352154.5:p.Ser26428ValfsTer2
ENST00000460472.6:c.78905dup (TTN)	ENSP00000434586.1:p.Ser26303ValfsTer2
ENST00000589042.5:c.106100dup (TTN) MANE Select	ENSP00000467141.1:p.Ser35368ValfsTer2
ENST00000591111.5:c.101177dup (TTN)	ENSP00000465570.1:p.Ser33727ValfsTer2
ENST00000615779.4:c.101177dup (TTN)	ENSP00000483597.1:p.Ser33727ValfsTer2
NM_001256850.1:c.101177dup (TTN)	NP_001243779.1:p.Ser33727ValfsTer2
NM_001267550.2:c.106100dup (TTN) MANE Select	NP_001254479.2:p.Ser35368ValfsTer2
NM_003319.4:c.78905dup (TTN)	NP_003310.4:p.Ser26303ValfsTer2
NM_133378.4:c.98396dup (TTN)	NP_596869.4:p.Ser32800ValfsTer2
NM_133432.3:c.79280dup (TTN)	NP_597676.3:p.Ser26428ValfsTer2
NM_133437.4:c.79481dup (TTN)	NP_597681.4:p.Ser26495ValfsTer2
NR_038271.1:n.446+6879dup (TTN-AS1)
NR_038272.1:n.220-5217dup (TTN-AS1)
XM_011511729.1:c.105197dup (TTN)	XP_011510031.1:p.Ser35067ValfsTer2
XM_011511730.1:c.79091dup (TTN)	XP_011510032.1:p.Ser26365ValfsTer2
XM_011511731.1:c.78950dup (TTN)	XP_011510033.1:p.Ser26318ValfsTer2
XM_017004819.1:c.104993dup (TTN)	XP_016860308.1:p.Ser34999ValfsTer2
XM_017004820.1:c.100391dup (TTN)	XP_016860309.1:p.Ser33465ValfsTer2
XM_017004821.1:c.100388dup (TTN)	XP_016860310.1:p.Ser33464ValfsTer2
XM_017004822.1:c.97430dup (TTN)	XP_016860311.1:p.Ser32478ValfsTer2
XM_017004823.1:c.79046dup (TTN)	XP_016860312.1:p.Ser26350ValfsTer2
XM_024453094.1:c.100541dup (TTN)	XP_024308862.1:p.Ser33515ValfsTer2
XM_024453095.1:c.100538dup (TTN)	XP_024308863.1:p.Ser33514ValfsTer2
XM_024453096.1:c.99971dup (TTN)	XP_024308864.1:p.Ser33325ValfsTer2
XM_024453097.1:c.97313dup (TTN)	XP_024308865.1:p.Ser32439ValfsTer2
XM_024453098.1:c.97232dup (TTN)	XP_024308866.1:p.Ser32412ValfsTer2
XM_024453099.1:c.78995dup (TTN)	XP_024308867.1:p.Ser26333ValfsTer2
XM_024453100.1:c.68849dup (TTN)	XP_024308868.1:p.Ser22951ValfsTer2