Canonical Allele Identifier: CA2580064879

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1740026
• ClinVar RCV Id: RCV002332363

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575300_178575302delinsACA , CM000664.2:g.178575300_178575302delinsACA	GRCh38
NC_000002.11:g.179440027_179440029delinsACA , CM000664.1:g.179440027_179440029delinsACA	GRCh37
NC_000002.10:g.179148273_179148275delinsACA	NCBI36
NG_011618.3:g.260501_260503delinsTGT , LRG_391:g.260501_260503delinsTGT
NG_051363.1:g.57474_57476delinsACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63126_63128delinsTGT (TTN)	ENSP00000343764.6:p.Ala21043Val
ENST00000342175.11:c.44211_44213delinsTGT (TTN)	ENSP00000340554.6:p.Ala14738Val
ENST00000359218.10:c.44010_44012delinsTGT (TTN)	ENSP00000352154.5:p.Ala14671Val
ENST00000342175.10:c.44211_44213delinsTGT (TTN)	ENSP00000340554.6:p.Ala14738Val
ENST00000342992.10:c.63126_63128delinsTGT (TTN)	ENSP00000343764.6:p.Ala21043Val
ENST00000359218.9:c.44010_44012delinsTGT (TTN)	ENSP00000352154.5:p.Ala14671Val
ENST00000460472.6:c.43635_43637delinsTGT (TTN)	ENSP00000434586.1:p.Ala14546Val
ENST00000589042.5:c.70830_70832delinsTGT (TTN) MANE Select	ENSP00000467141.1:p.Ala23611Val
ENST00000591111.5:c.65907_65909delinsTGT (TTN)	ENSP00000465570.1:p.Ala21970Val
ENST00000615779.4:c.65907_65909delinsTGT (TTN)	ENSP00000483597.1:p.Ala21970Val
NM_001256850.1:c.65907_65909delinsTGT (TTN)	NP_001243779.1:p.Ala21970Val
NM_001267550.2:c.70830_70832delinsTGT (TTN) MANE Select	NP_001254479.2:p.Ala23611Val
NM_003319.4:c.43635_43637delinsTGT (TTN)	NP_003310.4:p.Ala14546Val
NM_133378.4:c.63126_63128delinsTGT (TTN)	NP_596869.4:p.Ala21043Val
NM_133432.3:c.44010_44012delinsTGT (TTN)	NP_597676.3:p.Ala14671Val
NM_133437.4:c.44211_44213delinsTGT (TTN)	NP_597681.4:p.Ala14738Val
NR_038271.1:n.596+3851_596+3853delinsACA (TTN-AS1)
NR_038272.1:n.2044-7272_2044-7270delinsACA (TTN-AS1)
XM_011511729.1:c.69927_69929delinsTGT (TTN)	XP_011510031.1:p.Ala23310Val
XM_011511730.1:c.43821_43823delinsTGT (TTN)	XP_011510032.1:p.Ala14608Val
XM_011511731.1:c.43680_43682delinsTGT (TTN)	XP_011510033.1:p.Ala14561Val
XM_017004819.1:c.69723_69725delinsTGT (TTN)	XP_016860308.1:p.Ala23242Val
XM_017004820.1:c.65121_65123delinsTGT (TTN)	XP_016860309.1:p.Ala21708Val
XM_017004821.1:c.65118_65120delinsTGT (TTN)	XP_016860310.1:p.Ala21707Val
XM_017004822.1:c.62160_62162delinsTGT (TTN)	XP_016860311.1:p.Ala20721Val
XM_017004823.1:c.43776_43778delinsTGT (TTN)	XP_016860312.1:p.Ala14593Val
XM_024453094.1:c.65271_65273delinsTGT (TTN)	XP_024308862.1:p.Ala21758Val
XM_024453095.1:c.65268_65270delinsTGT (TTN)	XP_024308863.1:p.Ala21757Val
XM_024453096.1:c.64701_64703delinsTGT (TTN)	XP_024308864.1:p.Ala21568Val
XM_024453097.1:c.62043_62045delinsTGT (TTN)	XP_024308865.1:p.Ala20682Val
XM_024453098.1:c.61962_61964delinsTGT (TTN)	XP_024308866.1:p.Ala20655Val
XM_024453099.1:c.43725_43727delinsTGT (TTN)	XP_024308867.1:p.Ala14576Val
XM_024453100.1:c.33579_33581delinsTGT (TTN)	XP_024308868.1:p.Ala11194Val