Canonical Allele Identifier: CA645372701

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 437115
• ClinVar RCV Id: RCV000500191 ; RCV002490843
• dbSNP Id: rs1553608093

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573021_178573022delinsTG , CM000664.2:g.178573021_178573022delinsTG	GRCh38
NC_000002.11:g.179437748_179437749delinsTG , CM000664.1:g.179437748_179437749delinsTG	GRCh37
NC_000002.10:g.179145994_179145995delinsTG	NCBI36
NG_011618.3:g.262781_262782delinsCA , LRG_391:g.262781_262782delinsCA
NG_051363.1:g.55195_55196delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.65406_65407delinsCA (TTN)	ENSP00000343764.6:p.Trp21802_Gln21803delinsCysLys
ENST00000342175.11:c.46491_46492delinsCA (TTN)	ENSP00000340554.6:p.Trp15497_Gln15498delinsCysLys
ENST00000359218.10:c.46290_46291delinsCA (TTN)	ENSP00000352154.5:p.Trp15430_Gln15431delinsCysLys
ENST00000342175.10:c.46491_46492delinsCA (TTN)	ENSP00000340554.6:p.Trp15497_Gln15498delinsCysLys
ENST00000342992.10:c.65406_65407delinsCA (TTN)	ENSP00000343764.6:p.Trp21802_Gln21803delinsCysLys
ENST00000359218.9:c.46290_46291delinsCA (TTN)	ENSP00000352154.5:p.Trp15430_Gln15431delinsCysLys
ENST00000460472.6:c.45915_45916delinsCA (TTN)	ENSP00000434586.1:p.Trp15305_Gln15306delinsCysLys
ENST00000589042.5:c.73110_73111delinsCA (TTN) MANE Select	ENSP00000467141.1:p.Trp24370_Gln24371delinsCysLys
ENST00000591111.5:c.68187_68188delinsCA (TTN)	ENSP00000465570.1:p.Trp22729_Gln22730delinsCysLys
ENST00000615779.4:c.68187_68188delinsCA (TTN)	ENSP00000483597.1:p.Trp22729_Gln22730delinsCysLys
NM_001256850.1:c.68187_68188delinsCA (TTN)	NP_001243779.1:p.Trp22729_Gln22730delinsCysLys
NM_001267550.2:c.73110_73111delinsCA (TTN) MANE Select	NP_001254479.2:p.Trp24370_Gln24371delinsCysLys
NM_003319.4:c.45915_45916delinsCA (TTN)	NP_003310.4:p.Trp15305_Gln15306delinsCysLys
NM_133378.4:c.65406_65407delinsCA (TTN)	NP_596869.4:p.Trp21802_Gln21803delinsCysLys
NM_133432.3:c.46290_46291delinsCA (TTN)	NP_597676.3:p.Trp15430_Gln15431delinsCysLys
NM_133437.4:c.46491_46492delinsCA (TTN)	NP_597681.4:p.Trp15497_Gln15498delinsCysLys
NR_038271.1:n.596+1572_596+1573delinsTG (TTN-AS1)
NR_038272.1:n.2044-9551_2044-9550delinsTG (TTN-AS1)
XM_011511729.1:c.72207_72208delinsCA (TTN)	XP_011510031.1:p.Trp24069_Gln24070delinsCysLys
XM_011511730.1:c.46101_46102delinsCA (TTN)	XP_011510032.1:p.Trp15367_Gln15368delinsCysLys
XM_011511731.1:c.45960_45961delinsCA (TTN)	XP_011510033.1:p.Trp15320_Gln15321delinsCysLys
XM_017004819.1:c.72003_72004delinsCA (TTN)	XP_016860308.1:p.Trp24001_Gln24002delinsCysLys
XM_017004820.1:c.67401_67402delinsCA (TTN)	XP_016860309.1:p.Trp22467_Gln22468delinsCysLys
XM_017004821.1:c.67398_67399delinsCA (TTN)	XP_016860310.1:p.Trp22466_Gln22467delinsCysLys
XM_017004822.1:c.64440_64441delinsCA (TTN)	XP_016860311.1:p.Trp21480_Gln21481delinsCysLys
XM_017004823.1:c.46056_46057delinsCA (TTN)	XP_016860312.1:p.Trp15352_Gln15353delinsCysLys
XM_024453094.1:c.67551_67552delinsCA (TTN)	XP_024308862.1:p.Trp22517_Gln22518delinsCysLys
XM_024453095.1:c.67548_67549delinsCA (TTN)	XP_024308863.1:p.Trp22516_Gln22517delinsCysLys
XM_024453096.1:c.66981_66982delinsCA (TTN)	XP_024308864.1:p.Trp22327_Gln22328delinsCysLys
XM_024453097.1:c.64323_64324delinsCA (TTN)	XP_024308865.1:p.Trp21441_Gln21442delinsCysLys
XM_024453098.1:c.64242_64243delinsCA (TTN)	XP_024308866.1:p.Trp21414_Gln21415delinsCysLys
XM_024453099.1:c.46005_46006delinsCA (TTN)	XP_024308867.1:p.Trp15335_Gln15336delinsCysLys
XM_024453100.1:c.35859_35860delinsCA (TTN)	XP_024308868.1:p.Trp11953_Gln11954delinsCysLys