Canonical Allele Identifier: CA2662136140

Gene: TTN

Linked Data

• gnomAD v4: 2-178636708-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636711_178636712dup , CM000664.2:g.178636711_178636712dup	GRCh38
NC_000002.11:g.179501438_179501439dup , CM000664.1:g.179501438_179501439dup	GRCh37
NC_000002.10:g.179209683_179209684dup	NCBI36
NG_011618.3:g.199093_199094dup , LRG_391:g.199093_199094dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33313_33314dup	ENSP00000343764.6:p.Phe11106ArgfsTer6
ENST00000342175.11:c.14398_14399dup	ENSP00000340554.6:p.Phe4801ArgfsTer6
ENST00000359218.10:c.14197_14198dup	ENSP00000352154.5:p.Phe4734ArgfsTer6
ENST00000342175.10:c.14398_14399dup	ENSP00000340554.6:p.Phe4801ArgfsTer6
ENST00000342992.10:c.33313_33314dup	ENSP00000343764.6:p.Phe11106ArgfsTer6
ENST00000359218.9:c.14197_14198dup	ENSP00000352154.5:p.Phe4734ArgfsTer6
ENST00000460472.6:c.13822_13823dup	ENSP00000434586.1:p.Phe4609ArgfsTer6
ENST00000589042.5:c.41017_41018dup MANE Select	ENSP00000467141.1:p.Phe13674ArgfsTer6
ENST00000591111.5:c.36094_36095dup	ENSP00000465570.1:p.Phe12033ArgfsTer6
ENST00000615779.4:c.36094_36095dup	ENSP00000483597.1:p.Phe12033ArgfsTer6
NM_001256850.1:c.36094_36095dup	NP_001243779.1:p.Phe12033ArgfsTer6
NM_001267550.2:c.41017_41018dup MANE Select	NP_001254479.2:p.Phe13674ArgfsTer6
NM_003319.4:c.13822_13823dup	NP_003310.4:p.Phe4609ArgfsTer6
NM_133378.4:c.33313_33314dup	NP_596869.4:p.Phe11106ArgfsTer6
NM_133432.3:c.14197_14198dup	NP_597676.3:p.Phe4734ArgfsTer6
NM_133437.4:c.14398_14399dup	NP_597681.4:p.Phe4801ArgfsTer6
XM_011511729.1:c.40114_40115dup	XP_011510031.1:p.Phe13373ArgfsTer6
XM_011511730.1:c.14008_14009dup	XP_011510032.1:p.Phe4671ArgfsTer6
XM_011511731.1:c.13867_13868dup	XP_011510033.1:p.Phe4624ArgfsTer6
XM_017004819.1:c.39910_39911dup	XP_016860308.1:p.Phe13305ArgfsTer6
XM_017004820.1:c.35308_35309dup	XP_016860309.1:p.Phe11771ArgfsTer6
XM_017004821.1:c.35305_35306dup	XP_016860310.1:p.Phe11770ArgfsTer6
XM_017004822.1:c.32347_32348dup	XP_016860311.1:p.Phe10784ArgfsTer6
XM_017004823.1:c.13963_13964dup	XP_016860312.1:p.Phe4656ArgfsTer6
XM_024453094.1:c.35458_35459dup	XP_024308862.1:p.Phe11821ArgfsTer6
XM_024453095.1:c.35455_35456dup	XP_024308863.1:p.Phe11820ArgfsTer6
XM_024453096.1:c.34888_34889dup	XP_024308864.1:p.Phe11631ArgfsTer6
XM_024453097.1:c.32230_32231dup	XP_024308865.1:p.Phe10745ArgfsTer6
XM_024453098.1:c.32149_32150dup	XP_024308866.1:p.Phe10718ArgfsTer6
XM_024453099.1:c.13912_13913dup	XP_024308867.1:p.Phe4639ArgfsTer6
XM_024453100.1:c.3766_3767dup	XP_024308868.1:p.Phe1257ArgfsTer6