Canonical Allele Identifier: CA1039704590

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1699898509
• gnomAD v3: 2-178552680-CACCTTT-C
• gnomAD v4: 2-178552680-CACCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552687_178552692del , CM000664.2:g.178552687_178552692del	GRCh38
NC_000002.11:g.179417414_179417419del , CM000664.1:g.179417414_179417419del	GRCh37
NC_000002.10:g.179125660_179125665del	NCBI36
NG_011618.3:g.283117_283122del , LRG_391:g.283117_283122del
NG_051363.1:g.34861_34866del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82510_82515del (TTN)	ENSP00000343764.6:p.Lys27504_Gly27505del
ENST00000342175.11:c.63595_63600del (TTN)	ENSP00000340554.6:p.Lys21199_Gly21200del
ENST00000359218.10:c.63394_63399del (TTN)	ENSP00000352154.5:p.Lys21132_Gly21133del
ENST00000342175.10:c.63595_63600del (TTN)	ENSP00000340554.6:p.Lys21199_Gly21200del
ENST00000342992.10:c.82510_82515del (TTN)	ENSP00000343764.6:p.Lys27504_Gly27505del
ENST00000359218.9:c.63394_63399del (TTN)	ENSP00000352154.5:p.Lys21132_Gly21133del
ENST00000460472.6:c.63019_63024del (TTN)	ENSP00000434586.1:p.Lys21007_Gly21008del
ENST00000589042.5:c.90214_90219del (TTN) MANE Select	ENSP00000467141.1:p.Lys30072_Gly30073del
ENST00000591111.5:c.85291_85296del (TTN)	ENSP00000465570.1:p.Lys28431_Gly28432del
ENST00000615779.4:c.85291_85296del (TTN)	ENSP00000483597.1:p.Lys28431_Gly28432del
NM_001256850.1:c.85291_85296del (TTN)	NP_001243779.1:p.Lys28431_Gly28432del
NM_001267550.2:c.90214_90219del (TTN) MANE Select	NP_001254479.2:p.Lys30072_Gly30073del
NM_003319.4:c.63019_63024del (TTN)	NP_003310.4:p.Lys21007_Gly21008del
NM_133378.4:c.82510_82515del (TTN)	NP_596869.4:p.Lys27504_Gly27505del
NM_133432.3:c.63394_63399del (TTN)	NP_597676.3:p.Lys21132_Gly21133del
NM_133437.4:c.63595_63600del (TTN)	NP_597681.4:p.Lys21199_Gly21200del
NR_038271.1:n.447-18613_447-18608del (TTN-AS1)
NR_038272.1:n.2043+10326_2043+10331del (TTN-AS1)
XM_011511729.1:c.89311_89316del (TTN)	XP_011510031.1:p.Lys29771_Gly29772del
XM_011511730.1:c.63205_63210del (TTN)	XP_011510032.1:p.Lys21069_Gly21070del
XM_011511731.1:c.63064_63069del (TTN)	XP_011510033.1:p.Lys21022_Gly21023del
XM_017004819.1:c.89107_89112del (TTN)	XP_016860308.1:p.Lys29703_Gly29704del
XM_017004820.1:c.84505_84510del (TTN)	XP_016860309.1:p.Lys28169_Gly28170del
XM_017004821.1:c.84502_84507del (TTN)	XP_016860310.1:p.Lys28168_Gly28169del
XM_017004822.1:c.81544_81549del (TTN)	XP_016860311.1:p.Lys27182_Gly27183del
XM_017004823.1:c.63160_63165del (TTN)	XP_016860312.1:p.Lys21054_Gly21055del
XM_024453094.1:c.84655_84660del (TTN)	XP_024308862.1:p.Lys28219_Gly28220del
XM_024453095.1:c.84652_84657del (TTN)	XP_024308863.1:p.Lys28218_Gly28219del
XM_024453096.1:c.84085_84090del (TTN)	XP_024308864.1:p.Lys28029_Gly28030del
XM_024453097.1:c.81427_81432del (TTN)	XP_024308865.1:p.Lys27143_Gly27144del
XM_024453098.1:c.81346_81351del (TTN)	XP_024308866.1:p.Lys27116_Gly27117del
XM_024453099.1:c.63109_63114del (TTN)	XP_024308867.1:p.Lys21037_Gly21038del
XM_024453100.1:c.52963_52968del (TTN)	XP_024308868.1:p.Lys17655_Gly17656del