Canonical Allele Identifier: CA2740095973

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2950355
• ClinVar RCV Id: RCV003809665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544423del , CM000664.2:g.178544423del	GRCh38
NC_000002.11:g.179409150del , CM000664.1:g.179409150del	GRCh37
NC_000002.10:g.179117396del	NCBI36
NG_011618.3:g.291380del , LRG_391:g.291380del
NG_051363.1:g.26597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88102del (TTN)	ENSP00000343764.6:p.Asp29368MetfsTer7
ENST00000342175.11:c.69187del (TTN)	ENSP00000340554.6:p.Asp23063MetfsTer7
ENST00000359218.10:c.68986del (TTN)	ENSP00000352154.5:p.Asp22996MetfsTer7
ENST00000342175.10:c.69187del (TTN)	ENSP00000340554.6:p.Asp23063MetfsTer7
ENST00000342992.10:c.88102del (TTN)	ENSP00000343764.6:p.Asp29368MetfsTer7
ENST00000359218.9:c.68986del (TTN)	ENSP00000352154.5:p.Asp22996MetfsTer7
ENST00000460472.6:c.68611del (TTN)	ENSP00000434586.1:p.Asp22871MetfsTer7
ENST00000589042.5:c.95806del (TTN) MANE Select	ENSP00000467141.1:p.Asp31936MetfsTer7
ENST00000591111.5:c.90883del (TTN)	ENSP00000465570.1:p.Asp30295MetfsTer7
ENST00000615779.4:c.90883del (TTN)	ENSP00000483597.1:p.Asp30295MetfsTer7
NM_001256850.1:c.90883del (TTN)	NP_001243779.1:p.Asp30295MetfsTer7
NM_001267550.2:c.95806del (TTN) MANE Select	NP_001254479.2:p.Asp31936MetfsTer7
NM_003319.4:c.68611del (TTN)	NP_003310.4:p.Asp22871MetfsTer7
NM_133378.4:c.88102del (TTN)	NP_596869.4:p.Asp29368MetfsTer7
NM_133432.3:c.68986del (TTN)	NP_597676.3:p.Asp22996MetfsTer7
NM_133437.4:c.69187del (TTN)	NP_597681.4:p.Asp23063MetfsTer7
NR_038271.1:n.446+20787del (TTN-AS1)
NR_038272.1:n.2043+2062del (TTN-AS1)
XM_011511729.1:c.94903del (TTN)	XP_011510031.1:p.Asp31635MetfsTer7
XM_011511730.1:c.68797del (TTN)	XP_011510032.1:p.Asp22933MetfsTer7
XM_011511731.1:c.68656del (TTN)	XP_011510033.1:p.Asp22886MetfsTer7
XM_017004819.1:c.94699del (TTN)	XP_016860308.1:p.Asp31567MetfsTer7
XM_017004820.1:c.90097del (TTN)	XP_016860309.1:p.Asp30033MetfsTer7
XM_017004821.1:c.90094del (TTN)	XP_016860310.1:p.Asp30032MetfsTer7
XM_017004822.1:c.87136del (TTN)	XP_016860311.1:p.Asp29046MetfsTer7
XM_017004823.1:c.68752del (TTN)	XP_016860312.1:p.Asp22918MetfsTer7
XM_024453094.1:c.90247del (TTN)	XP_024308862.1:p.Asp30083MetfsTer7
XM_024453095.1:c.90244del (TTN)	XP_024308863.1:p.Asp30082MetfsTer7
XM_024453096.1:c.89677del (TTN)	XP_024308864.1:p.Asp29893MetfsTer7
XM_024453097.1:c.87019del (TTN)	XP_024308865.1:p.Asp29007MetfsTer7
XM_024453098.1:c.86938del (TTN)	XP_024308866.1:p.Asp28980MetfsTer7
XM_024453099.1:c.68701del (TTN)	XP_024308867.1:p.Asp22901MetfsTer7
XM_024453100.1:c.58555del (TTN)	XP_024308868.1:p.Asp19519MetfsTer7