Canonical Allele Identifier: CA2580617927

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2579646
• ClinVar RCV Id: RCV003328081

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544476_178544482del , CM000664.2:g.178544476_178544482del	GRCh38
NC_000002.11:g.179409203_179409209del , CM000664.1:g.179409203_179409209del	GRCh37
NC_000002.10:g.179117449_179117455del	NCBI36
NG_011618.3:g.291321_291327del , LRG_391:g.291321_291327del
NG_051363.1:g.26650_26656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88043_88049del (TTN)	ENSP00000343764.6:p.Pro29348LeufsTer25
ENST00000342175.11:c.69128_69134del (TTN)	ENSP00000340554.6:p.Pro23043LeufsTer25
ENST00000359218.10:c.68927_68933del (TTN)	ENSP00000352154.5:p.Pro22976LeufsTer25
ENST00000342175.10:c.69128_69134del (TTN)	ENSP00000340554.6:p.Pro23043LeufsTer25
ENST00000342992.10:c.88043_88049del (TTN)	ENSP00000343764.6:p.Pro29348LeufsTer25
ENST00000359218.9:c.68927_68933del (TTN)	ENSP00000352154.5:p.Pro22976LeufsTer25
ENST00000460472.6:c.68552_68558del (TTN)	ENSP00000434586.1:p.Pro22851LeufsTer25
ENST00000589042.5:c.95747_95753del (TTN) MANE Select	ENSP00000467141.1:p.Pro31916LeufsTer25
ENST00000591111.5:c.90824_90830del (TTN)	ENSP00000465570.1:p.Pro30275LeufsTer25
ENST00000615779.4:c.90824_90830del (TTN)	ENSP00000483597.1:p.Pro30275LeufsTer25
NM_001256850.1:c.90824_90830del (TTN)	NP_001243779.1:p.Pro30275LeufsTer25
NM_001267550.2:c.95747_95753del (TTN) MANE Select	NP_001254479.2:p.Pro31916LeufsTer25
NM_003319.4:c.68552_68558del (TTN)	NP_003310.4:p.Pro22851LeufsTer25
NM_133378.4:c.88043_88049del (TTN)	NP_596869.4:p.Pro29348LeufsTer25
NM_133432.3:c.68927_68933del (TTN)	NP_597676.3:p.Pro22976LeufsTer25
NM_133437.4:c.69128_69134del (TTN)	NP_597681.4:p.Pro23043LeufsTer25
NR_038271.1:n.446+20840_446+20846del (TTN-AS1)
NR_038272.1:n.2043+2115_2043+2121del (TTN-AS1)
XM_011511729.1:c.94844_94850del (TTN)	XP_011510031.1:p.Pro31615LeufsTer25
XM_011511730.1:c.68738_68744del (TTN)	XP_011510032.1:p.Pro22913LeufsTer25
XM_011511731.1:c.68597_68603del (TTN)	XP_011510033.1:p.Pro22866LeufsTer25
XM_017004819.1:c.94640_94646del (TTN)	XP_016860308.1:p.Pro31547LeufsTer25
XM_017004820.1:c.90038_90044del (TTN)	XP_016860309.1:p.Pro30013LeufsTer25
XM_017004821.1:c.90035_90041del (TTN)	XP_016860310.1:p.Pro30012LeufsTer25
XM_017004822.1:c.87077_87083del (TTN)	XP_016860311.1:p.Pro29026LeufsTer25
XM_017004823.1:c.68693_68699del (TTN)	XP_016860312.1:p.Pro22898LeufsTer25
XM_024453094.1:c.90188_90194del (TTN)	XP_024308862.1:p.Pro30063LeufsTer25
XM_024453095.1:c.90185_90191del (TTN)	XP_024308863.1:p.Pro30062LeufsTer25
XM_024453096.1:c.89618_89624del (TTN)	XP_024308864.1:p.Pro29873LeufsTer25
XM_024453097.1:c.86960_86966del (TTN)	XP_024308865.1:p.Pro28987LeufsTer25
XM_024453098.1:c.86879_86885del (TTN)	XP_024308866.1:p.Pro28960LeufsTer25
XM_024453099.1:c.68642_68648del (TTN)	XP_024308867.1:p.Pro22881LeufsTer25
XM_024453100.1:c.58496_58502del (TTN)	XP_024308868.1:p.Pro19499LeufsTer25