Canonical Allele Identifier: CA2580064780

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1747504
• ClinVar RCV Id: RCV002349556

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564605_178564612del , CM000664.2:g.178564605_178564612del	GRCh38
NC_000002.11:g.179429332_179429339del , CM000664.1:g.179429332_179429339del	GRCh37
NC_000002.10:g.179137578_179137585del	NCBI36
NG_011618.3:g.271193_271200del , LRG_391:g.271193_271200del
NG_051363.1:g.46779_46786del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73818_73825del (TTN)	ENSP00000343764.6:p.Gly24607Ter
ENST00000342175.11:c.54903_54910del (TTN)	ENSP00000340554.6:p.Gly18302Ter
ENST00000359218.10:c.54702_54709del (TTN)	ENSP00000352154.5:p.Gly18235Ter
ENST00000342175.10:c.54903_54910del (TTN)	ENSP00000340554.6:p.Gly18302Ter
ENST00000342992.10:c.73818_73825del (TTN)	ENSP00000343764.6:p.Gly24607Ter
ENST00000359218.9:c.54702_54709del (TTN)	ENSP00000352154.5:p.Gly18235Ter
ENST00000460472.6:c.54327_54334del (TTN)	ENSP00000434586.1:p.Gly18110Ter
ENST00000589042.5:c.81522_81529del (TTN) MANE Select	ENSP00000467141.1:p.Gly27175Ter
ENST00000591111.5:c.76599_76606del (TTN)	ENSP00000465570.1:p.Gly25534Ter
ENST00000615779.4:c.76599_76606del (TTN)	ENSP00000483597.1:p.Gly25534Ter
NM_001256850.1:c.76599_76606del (TTN)	NP_001243779.1:p.Gly25534Ter
NM_001267550.2:c.81522_81529del (TTN) MANE Select	NP_001254479.2:p.Gly27175Ter
NM_003319.4:c.54327_54334del (TTN)	NP_003310.4:p.Gly18110Ter
NM_133378.4:c.73818_73825del (TTN)	NP_596869.4:p.Gly24607Ter
NM_133432.3:c.54702_54709del (TTN)	NP_597676.3:p.Gly18235Ter
NM_133437.4:c.54903_54910del (TTN)	NP_597681.4:p.Gly18302Ter
NR_038271.1:n.447-6695_447-6688del (TTN-AS1)
NR_038272.1:n.2044-17967_2044-17960del (TTN-AS1)
XM_011511729.1:c.80619_80626del (TTN)	XP_011510031.1:p.Gly26874Ter
XM_011511730.1:c.54513_54520del (TTN)	XP_011510032.1:p.Gly18172Ter
XM_011511731.1:c.54372_54379del (TTN)	XP_011510033.1:p.Gly18125Ter
XM_017004819.1:c.80415_80422del (TTN)	XP_016860308.1:p.Gly26806Ter
XM_017004820.1:c.75813_75820del (TTN)	XP_016860309.1:p.Gly25272Ter
XM_017004821.1:c.75810_75817del (TTN)	XP_016860310.1:p.Gly25271Ter
XM_017004822.1:c.72852_72859del (TTN)	XP_016860311.1:p.Gly24285Ter
XM_017004823.1:c.54468_54475del (TTN)	XP_016860312.1:p.Gly18157Ter
XM_024453094.1:c.75963_75970del (TTN)	XP_024308862.1:p.Gly25322Ter
XM_024453095.1:c.75960_75967del (TTN)	XP_024308863.1:p.Gly25321Ter
XM_024453096.1:c.75393_75400del (TTN)	XP_024308864.1:p.Gly25132Ter
XM_024453097.1:c.72735_72742del (TTN)	XP_024308865.1:p.Gly24246Ter
XM_024453098.1:c.72654_72661del (TTN)	XP_024308866.1:p.Gly24219Ter
XM_024453099.1:c.54417_54424del (TTN)	XP_024308867.1:p.Gly18140Ter
XM_024453100.1:c.44271_44278del (TTN)	XP_024308868.1:p.Gly14758Ter