Canonical Allele Identifier: CA60950864

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 915801
• ClinVar RCV Id: RCV002418602 ; RCV001171219 ; RCV002483932
• dbSNP Id: rs386653129

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178529171_178529173delinsACT , CM000664.2:g.178529171_178529173delinsACT	GRCh38
NC_000002.11:g.179393898_179393900delinsACT , CM000664.1:g.179393898_179393900delinsACT	GRCh37
NC_000002.10:g.179102144_179102146delinsACT	NCBI36
NG_011618.3:g.306630_306632delinsAGT , LRG_391:g.306630_306632delinsAGT
NG_051363.1:g.11345_11347delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98874_98876delinsAGT (TTN)	ENSP00000343764.6:p.Glu32959Val
ENST00000342175.11:c.79959_79961delinsAGT (TTN)	ENSP00000340554.6:p.Glu26654Val
ENST00000359218.10:c.79758_79760delinsAGT (TTN)	ENSP00000352154.5:p.Glu26587Val
ENST00000342175.10:c.79959_79961delinsAGT (TTN)	ENSP00000340554.6:p.Glu26654Val
ENST00000342992.10:c.98874_98876delinsAGT (TTN)	ENSP00000343764.6:p.Glu32959Val
ENST00000359218.9:c.79758_79760delinsAGT (TTN)	ENSP00000352154.5:p.Glu26587Val
ENST00000460472.6:c.79383_79385delinsAGT (TTN)	ENSP00000434586.1:p.Glu26462Val
ENST00000589042.5:c.106578_106580delinsAGT (TTN) MANE Select	ENSP00000467141.1:p.Glu35527Val
ENST00000591111.5:c.101655_101657delinsAGT (TTN)	ENSP00000465570.1:p.Glu33886Val
ENST00000615779.4:c.101655_101657delinsAGT (TTN)	ENSP00000483597.1:p.Glu33886Val
NM_001256850.1:c.101655_101657delinsAGT (TTN)	NP_001243779.1:p.Glu33886Val
NM_001267550.2:c.106578_106580delinsAGT (TTN) MANE Select	NP_001254479.2:p.Glu35527Val
NM_003319.4:c.79383_79385delinsAGT (TTN)	NP_003310.4:p.Glu26462Val
NM_133378.4:c.98874_98876delinsAGT (TTN)	NP_596869.4:p.Glu32959Val
NM_133432.3:c.79758_79760delinsAGT (TTN)	NP_597676.3:p.Glu26587Val
NM_133437.4:c.79959_79961delinsAGT (TTN)	NP_597681.4:p.Glu26654Val
NR_038271.1:n.446+5535_446+5537delinsACT (TTN-AS1)
NR_038272.1:n.219+5535_219+5537delinsACT (TTN-AS1)
XM_011511729.1:c.105675_105677delinsAGT (TTN)	XP_011510031.1:p.Glu35226Val
XM_011511730.1:c.79569_79571delinsAGT (TTN)	XP_011510032.1:p.Glu26524Val
XM_011511731.1:c.79428_79430delinsAGT (TTN)	XP_011510033.1:p.Glu26477Val
XM_017004819.1:c.105471_105473delinsAGT (TTN)	XP_016860308.1:p.Glu35158Val
XM_017004820.1:c.100869_100871delinsAGT (TTN)	XP_016860309.1:p.Glu33624Val
XM_017004821.1:c.100866_100868delinsAGT (TTN)	XP_016860310.1:p.Glu33623Val
XM_017004822.1:c.97908_97910delinsAGT (TTN)	XP_016860311.1:p.Glu32637Val
XM_017004823.1:c.79524_79526delinsAGT (TTN)	XP_016860312.1:p.Glu26509Val
XM_024453094.1:c.101019_101021delinsAGT (TTN)	XP_024308862.1:p.Glu33674Val
XM_024453095.1:c.101016_101018delinsAGT (TTN)	XP_024308863.1:p.Glu33673Val
XM_024453096.1:c.100449_100451delinsAGT (TTN)	XP_024308864.1:p.Glu33484Val
XM_024453097.1:c.97791_97793delinsAGT (TTN)	XP_024308865.1:p.Glu32598Val
XM_024453098.1:c.97710_97712delinsAGT (TTN)	XP_024308866.1:p.Glu32571Val
XM_024453099.1:c.79473_79475delinsAGT (TTN)	XP_024308867.1:p.Glu26492Val
XM_024453100.1:c.69327_69329delinsAGT (TTN)	XP_024308868.1:p.Glu23110Val