Canonical Allele Identifier: CA261890

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47147
• ClinVar RCV Id: RCV000040417 ; RCV000184316 ; RCV000458722 ; RCV001004944 ; RCV002321524
• dbSNP Id: rs397517643
• gnomAD v4: 2-178592913-AC-A
• MyVariant Identifiers: chr2:g.179457641del (hg19) ; chr2:g.178592914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592914del , CM000664.2:g.178592914del	GRCh38
NC_000002.11:g.179457641del , CM000664.1:g.179457641del	GRCh37
NC_000002.10:g.179165887del	NCBI36
NG_011618.3:g.242889del , LRG_391:g.242889del
NG_051363.1:g.75088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51501del (TTN)	ENSP00000343764.6:p.Glu17167AspfsTer24
ENST00000342175.11:c.32586del (TTN)	ENSP00000340554.6:p.Glu10862AspfsTer24
ENST00000359218.10:c.32385del (TTN)	ENSP00000352154.5:p.Glu10795AspfsTer24
ENST00000342175.10:c.32586del (TTN)	ENSP00000340554.6:p.Glu10862AspfsTer24
ENST00000342992.10:c.51501del (TTN)	ENSP00000343764.6:p.Glu17167AspfsTer24
ENST00000359218.9:c.32385del (TTN)	ENSP00000352154.5:p.Glu10795AspfsTer24
ENST00000460472.6:c.32010del (TTN)	ENSP00000434586.1:p.Glu10670AspfsTer24
ENST00000589042.5:c.59205del (TTN) MANE Select	ENSP00000467141.1:p.Glu19735AspfsTer24
ENST00000591111.5:c.54282del (TTN)	ENSP00000465570.1:p.Glu18094AspfsTer24
ENST00000615779.4:c.54282del (TTN)	ENSP00000483597.1:p.Glu18094AspfsTer24
NM_001256850.1:c.54282del (TTN)	NP_001243779.1:p.Glu18094AspfsTer24
NM_001267550.2:c.59205del (TTN) MANE Select	NP_001254479.2:p.Glu19735AspfsTer24
NM_003319.4:c.32010del (TTN)	NP_003310.4:p.Glu10670AspfsTer24
NM_133378.4:c.51501del (TTN)	NP_596869.4:p.Glu17167AspfsTer24
NM_133432.3:c.32385del (TTN)	NP_597676.3:p.Glu10795AspfsTer24
NM_133437.4:c.32586del (TTN)	NP_597681.4:p.Glu10862AspfsTer24
NR_038271.1:n.597-4682del (TTN-AS1)
NR_038272.1:n.3364+1600del (TTN-AS1)
XM_011511729.1:c.58302del (TTN)	XP_011510031.1:p.Glu19434AspfsTer24
XM_011511730.1:c.32196del (TTN)	XP_011510032.1:p.Glu10732AspfsTer24
XM_011511731.1:c.32055del (TTN)	XP_011510033.1:p.Glu10685AspfsTer24
XM_017004819.1:c.58098del (TTN)	XP_016860308.1:p.Glu19366AspfsTer24
XM_017004820.1:c.53496del (TTN)	XP_016860309.1:p.Glu17832AspfsTer24
XM_017004821.1:c.53493del (TTN)	XP_016860310.1:p.Glu17831AspfsTer24
XM_017004822.1:c.50535del (TTN)	XP_016860311.1:p.Glu16845AspfsTer24
XM_017004823.1:c.32151del (TTN)	XP_016860312.1:p.Glu10717AspfsTer24
XM_024453094.1:c.53646del (TTN)	XP_024308862.1:p.Glu17882AspfsTer24
XM_024453095.1:c.53643del (TTN)	XP_024308863.1:p.Glu17881AspfsTer24
XM_024453096.1:c.53076del (TTN)	XP_024308864.1:p.Glu17692AspfsTer24
XM_024453097.1:c.50418del (TTN)	XP_024308865.1:p.Glu16806AspfsTer24
XM_024453098.1:c.50337del (TTN)	XP_024308866.1:p.Glu16779AspfsTer24
XM_024453099.1:c.32100del (TTN)	XP_024308867.1:p.Glu10700AspfsTer24
XM_024453100.1:c.21954del (TTN)	XP_024308868.1:p.Glu7318AspfsTer24