Canonical Allele Identifier: CA1139655657

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 968328
• ClinVar RCV Id: RCV001243433
• dbSNP Id: rs2050313754

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591980_178591998delinsTT , CM000664.2:g.178591980_178591998delinsTT	GRCh38
NC_000002.11:g.179456707_179456725delinsTT , CM000664.1:g.179456707_179456725delinsTT	GRCh37
NC_000002.10:g.179164953_179164971delinsTT	NCBI36
NG_011618.3:g.243805_243823delinsAA , LRG_391:g.243805_243823delinsAA
NG_051363.1:g.74154_74172delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52202_52220delinsAA (TTN)	ENSP00000343764.6:p.Ile17401LysfsTer16
ENST00000342175.11:c.33287_33305delinsAA (TTN)	ENSP00000340554.6:p.Ile11096LysfsTer16
ENST00000359218.10:c.33086_33104delinsAA (TTN)	ENSP00000352154.5:p.Ile11029LysfsTer16
ENST00000342175.10:c.33287_33305delinsAA (TTN)	ENSP00000340554.6:p.Ile11096LysfsTer16
ENST00000342992.10:c.52202_52220delinsAA (TTN)	ENSP00000343764.6:p.Ile17401LysfsTer16
ENST00000359218.9:c.33086_33104delinsAA (TTN)	ENSP00000352154.5:p.Ile11029LysfsTer16
ENST00000460472.6:c.32711_32729delinsAA (TTN)	ENSP00000434586.1:p.Ile10904LysfsTer16
ENST00000589042.5:c.59906_59924delinsAA (TTN) MANE Select	ENSP00000467141.1:p.Ile19969LysfsTer16
ENST00000591111.5:c.54983_55001delinsAA (TTN)	ENSP00000465570.1:p.Ile18328LysfsTer16
ENST00000615779.4:c.54983_55001delinsAA (TTN)	ENSP00000483597.1:p.Ile18328LysfsTer16
NM_001256850.1:c.54983_55001delinsAA (TTN)	NP_001243779.1:p.Ile18328LysfsTer16
NM_001267550.2:c.59906_59924delinsAA (TTN) MANE Select	NP_001254479.2:p.Ile19969LysfsTer16
NM_003319.4:c.32711_32729delinsAA (TTN)	NP_003310.4:p.Ile10904LysfsTer16
NM_133378.4:c.52202_52220delinsAA (TTN)	NP_596869.4:p.Ile17401LysfsTer16
NM_133432.3:c.33086_33104delinsAA (TTN)	NP_597676.3:p.Ile11029LysfsTer16
NM_133437.4:c.33287_33305delinsAA (TTN)	NP_597681.4:p.Ile11096LysfsTer16
NR_038271.1:n.597-5616_597-5598delinsTT (TTN-AS1)
NR_038272.1:n.3364+666_3364+684delinsTT (TTN-AS1)
XM_011511729.1:c.59003_59021delinsAA (TTN)	XP_011510031.1:p.Ile19668LysfsTer16
XM_011511730.1:c.32897_32915delinsAA (TTN)	XP_011510032.1:p.Ile10966LysfsTer16
XM_011511731.1:c.32756_32774delinsAA (TTN)	XP_011510033.1:p.Ile10919LysfsTer16
XM_017004819.1:c.58799_58817delinsAA (TTN)	XP_016860308.1:p.Ile19600LysfsTer16
XM_017004820.1:c.54197_54215delinsAA (TTN)	XP_016860309.1:p.Ile18066LysfsTer16
XM_017004821.1:c.54194_54212delinsAA (TTN)	XP_016860310.1:p.Ile18065LysfsTer16
XM_017004822.1:c.51236_51254delinsAA (TTN)	XP_016860311.1:p.Ile17079LysfsTer16
XM_017004823.1:c.32852_32870delinsAA (TTN)	XP_016860312.1:p.Ile10951LysfsTer16
XM_024453094.1:c.54347_54365delinsAA (TTN)	XP_024308862.1:p.Ile18116LysfsTer16
XM_024453095.1:c.54344_54362delinsAA (TTN)	XP_024308863.1:p.Ile18115LysfsTer16
XM_024453096.1:c.53777_53795delinsAA (TTN)	XP_024308864.1:p.Ile17926LysfsTer16
XM_024453097.1:c.51119_51137delinsAA (TTN)	XP_024308865.1:p.Ile17040LysfsTer16
XM_024453098.1:c.51038_51056delinsAA (TTN)	XP_024308866.1:p.Ile17013LysfsTer16
XM_024453099.1:c.32801_32819delinsAA (TTN)	XP_024308867.1:p.Ile10934LysfsTer16
XM_024453100.1:c.22655_22673delinsAA (TTN)	XP_024308868.1:p.Ile7552LysfsTer16