Canonical Allele Identifier: CA1310527711

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1067273
• ClinVar RCV Id: RCV001378491
• dbSNP Id: rs1703876192

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562071_178562074del , CM000664.2:g.178562071_178562074del	GRCh38
NC_000002.11:g.179426798_179426801del , CM000664.1:g.179426798_179426801del	GRCh37
NC_000002.10:g.179135044_179135047del	NCBI36
NG_011618.3:g.273733_273736del , LRG_391:g.273733_273736del
NG_051363.1:g.44245_44248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76358_76361del (TTN)	ENSP00000343764.6:p.Ser25453LeufsTer23
ENST00000342175.11:c.57443_57446del (TTN)	ENSP00000340554.6:p.Ser19148LeufsTer23
ENST00000359218.10:c.57242_57245del (TTN)	ENSP00000352154.5:p.Ser19081LeufsTer23
ENST00000342175.10:c.57443_57446del (TTN)	ENSP00000340554.6:p.Ser19148LeufsTer23
ENST00000342992.10:c.76358_76361del (TTN)	ENSP00000343764.6:p.Ser25453LeufsTer23
ENST00000359218.9:c.57242_57245del (TTN)	ENSP00000352154.5:p.Ser19081LeufsTer23
ENST00000460472.6:c.56867_56870del (TTN)	ENSP00000434586.1:p.Ser18956LeufsTer23
ENST00000589042.5:c.84062_84065del (TTN) MANE Select	ENSP00000467141.1:p.Ser28021LeufsTer23
ENST00000591111.5:c.79139_79142del (TTN)	ENSP00000465570.1:p.Ser26380LeufsTer23
ENST00000615779.4:c.79139_79142del (TTN)	ENSP00000483597.1:p.Ser26380LeufsTer23
NM_001256850.1:c.79139_79142del (TTN)	NP_001243779.1:p.Ser26380LeufsTer23
NM_001267550.2:c.84062_84065del (TTN) MANE Select	NP_001254479.2:p.Ser28021LeufsTer23
NM_003319.4:c.56867_56870del (TTN)	NP_003310.4:p.Ser18956LeufsTer23
NM_133378.4:c.76358_76361del (TTN)	NP_596869.4:p.Ser25453LeufsTer23
NM_133432.3:c.57242_57245del (TTN)	NP_597676.3:p.Ser19081LeufsTer23
NM_133437.4:c.57443_57446del (TTN)	NP_597681.4:p.Ser19148LeufsTer23
NR_038271.1:n.447-9229_447-9226del (TTN-AS1)
NR_038272.1:n.2043+19710_2043+19713del (TTN-AS1)
XM_011511729.1:c.83159_83162del (TTN)	XP_011510031.1:p.Ser27720LeufsTer23
XM_011511730.1:c.57053_57056del (TTN)	XP_011510032.1:p.Ser19018LeufsTer23
XM_011511731.1:c.56912_56915del (TTN)	XP_011510033.1:p.Ser18971LeufsTer23
XM_017004819.1:c.82955_82958del (TTN)	XP_016860308.1:p.Ser27652LeufsTer23
XM_017004820.1:c.78353_78356del (TTN)	XP_016860309.1:p.Ser26118LeufsTer23
XM_017004821.1:c.78350_78353del (TTN)	XP_016860310.1:p.Ser26117LeufsTer23
XM_017004822.1:c.75392_75395del (TTN)	XP_016860311.1:p.Ser25131LeufsTer23
XM_017004823.1:c.57008_57011del (TTN)	XP_016860312.1:p.Ser19003LeufsTer23
XM_024453094.1:c.78503_78506del (TTN)	XP_024308862.1:p.Ser26168LeufsTer23
XM_024453095.1:c.78500_78503del (TTN)	XP_024308863.1:p.Ser26167LeufsTer23
XM_024453096.1:c.77933_77936del (TTN)	XP_024308864.1:p.Ser25978LeufsTer23
XM_024453097.1:c.75275_75278del (TTN)	XP_024308865.1:p.Ser25092LeufsTer23
XM_024453098.1:c.75194_75197del (TTN)	XP_024308866.1:p.Ser25065LeufsTer23
XM_024453099.1:c.56957_56960del (TTN)	XP_024308867.1:p.Ser18986LeufsTer23
XM_024453100.1:c.46811_46814del (TTN)	XP_024308868.1:p.Ser15604LeufsTer23