Canonical Allele Identifier: CA2573134071

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1504358
• ClinVar RCV Id: RCV002028738
• dbSNP Id: rs2154137417

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536379del , CM000664.2:g.178536379del	GRCh38
NC_000002.11:g.179401106del , CM000664.1:g.179401106del	GRCh37
NC_000002.10:g.179109352del	NCBI36
NG_011618.3:g.299425del , LRG_391:g.299425del
NG_051363.1:g.18553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92665del (TTN)	ENSP00000343764.6:p.Ile30890LeufsTer10
ENST00000342175.11:c.73750del (TTN)	ENSP00000340554.6:p.Ile24585LeufsTer10
ENST00000359218.10:c.73549del (TTN)	ENSP00000352154.5:p.Ile24518LeufsTer10
ENST00000342175.10:c.73750del (TTN)	ENSP00000340554.6:p.Ile24585LeufsTer10
ENST00000342992.10:c.92665del (TTN)	ENSP00000343764.6:p.Ile30890LeufsTer10
ENST00000359218.9:c.73549del (TTN)	ENSP00000352154.5:p.Ile24518LeufsTer10
ENST00000460472.6:c.73174del (TTN)	ENSP00000434586.1:p.Ile24393LeufsTer10
ENST00000589042.5:c.100369del (TTN) MANE Select	ENSP00000467141.1:p.Ile33458LeufsTer10
ENST00000591111.5:c.95446del (TTN)	ENSP00000465570.1:p.Ile31817LeufsTer10
ENST00000615779.4:c.95446del (TTN)	ENSP00000483597.1:p.Ile31817LeufsTer10
NM_001256850.1:c.95446del (TTN)	NP_001243779.1:p.Ile31817LeufsTer10
NM_001267550.2:c.100369del (TTN) MANE Select	NP_001254479.2:p.Ile33458LeufsTer10
NM_003319.4:c.73174del (TTN)	NP_003310.4:p.Ile24393LeufsTer10
NM_133378.4:c.92665del (TTN)	NP_596869.4:p.Ile30890LeufsTer10
NM_133432.3:c.73549del (TTN)	NP_597676.3:p.Ile24518LeufsTer10
NM_133437.4:c.73750del (TTN)	NP_597681.4:p.Ile24585LeufsTer10
NR_038271.1:n.446+12743del (TTN-AS1)
NR_038272.1:n.316+551del (TTN-AS1)
XM_011511729.1:c.99466del (TTN)	XP_011510031.1:p.Ile33157LeufsTer10
XM_011511730.1:c.73360del (TTN)	XP_011510032.1:p.Ile24455LeufsTer10
XM_011511731.1:c.73219del (TTN)	XP_011510033.1:p.Ile24408LeufsTer10
XM_017004819.1:c.99262del (TTN)	XP_016860308.1:p.Ile33089LeufsTer10
XM_017004820.1:c.94660del (TTN)	XP_016860309.1:p.Ile31555LeufsTer10
XM_017004821.1:c.94657del (TTN)	XP_016860310.1:p.Ile31554LeufsTer10
XM_017004822.1:c.91699del (TTN)	XP_016860311.1:p.Ile30568LeufsTer10
XM_017004823.1:c.73315del (TTN)	XP_016860312.1:p.Ile24440LeufsTer10
XM_024453094.1:c.94810del (TTN)	XP_024308862.1:p.Ile31605LeufsTer10
XM_024453095.1:c.94807del (TTN)	XP_024308863.1:p.Ile31604LeufsTer10
XM_024453096.1:c.94240del (TTN)	XP_024308864.1:p.Ile31415LeufsTer10
XM_024453097.1:c.91582del (TTN)	XP_024308865.1:p.Ile30529LeufsTer10
XM_024453098.1:c.91501del (TTN)	XP_024308866.1:p.Ile30502LeufsTer10
XM_024453099.1:c.73264del (TTN)	XP_024308867.1:p.Ile24423LeufsTer10
XM_024453100.1:c.63118del (TTN)	XP_024308868.1:p.Ile21041LeufsTer10