Canonical Allele Identifier: CA2740096130

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2954308
• ClinVar RCV Id: RCV003813531

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618687del , CM000664.2:g.178618687del	GRCh38
NC_000002.11:g.179483414del , CM000664.1:g.179483414del	GRCh37
NC_000002.10:g.179191659del	NCBI36
NG_011618.3:g.217118del , LRG_391:g.217118del
NG_051363.1:g.100861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39161del (TTN)	ENSP00000343764.6:p.Phe13054SerfsTer4
ENST00000342175.11:c.20246del (TTN)	ENSP00000340554.6:p.Phe6749SerfsTer4
ENST00000359218.10:c.20045del (TTN)	ENSP00000352154.5:p.Phe6682SerfsTer4
ENST00000342175.10:c.20246del (TTN)	ENSP00000340554.6:p.Phe6749SerfsTer4
ENST00000342992.10:c.39161del (TTN)	ENSP00000343764.6:p.Phe13054SerfsTer4
ENST00000359218.9:c.20045del (TTN)	ENSP00000352154.5:p.Phe6682SerfsTer4
ENST00000460472.6:c.19670del (TTN)	ENSP00000434586.1:p.Phe6557SerfsTer4
ENST00000589042.5:c.46865del (TTN) MANE Select	ENSP00000467141.1:p.Phe15622SerfsTer4
ENST00000591111.5:c.41942del (TTN)	ENSP00000465570.1:p.Phe13981SerfsTer4
ENST00000615779.4:c.41942del (TTN)	ENSP00000483597.1:p.Phe13981SerfsTer4
NM_001256850.1:c.41942del (TTN)	NP_001243779.1:p.Phe13981SerfsTer4
NM_001267550.2:c.46865del (TTN) MANE Select	NP_001254479.2:p.Phe15622SerfsTer4
NM_003319.4:c.19670del (TTN)	NP_003310.4:p.Phe6557SerfsTer4
NM_133378.4:c.39161del (TTN)	NP_596869.4:p.Phe13054SerfsTer4
NM_133432.3:c.20045del (TTN)	NP_597676.3:p.Phe6682SerfsTer4
NM_133437.4:c.20246del (TTN)	NP_597681.4:p.Phe6749SerfsTer4
NR_038271.1:n.1605-1066del (TTN-AS1)
XM_011511729.1:c.45962del (TTN)	XP_011510031.1:p.Phe15321SerfsTer4
XM_011511730.1:c.19856del (TTN)	XP_011510032.1:p.Phe6619SerfsTer4
XM_011511731.1:c.19715del (TTN)	XP_011510033.1:p.Phe6572SerfsTer4
XM_017004819.1:c.45758del (TTN)	XP_016860308.1:p.Phe15253SerfsTer4
XM_017004820.1:c.41156del (TTN)	XP_016860309.1:p.Phe13719SerfsTer4
XM_017004821.1:c.41153del (TTN)	XP_016860310.1:p.Phe13718SerfsTer4
XM_017004822.1:c.38195del (TTN)	XP_016860311.1:p.Phe12732SerfsTer4
XM_017004823.1:c.19811del (TTN)	XP_016860312.1:p.Phe6604SerfsTer4
XM_024453094.1:c.41306del (TTN)	XP_024308862.1:p.Phe13769SerfsTer4
XM_024453095.1:c.41303del (TTN)	XP_024308863.1:p.Phe13768SerfsTer4
XM_024453096.1:c.40736del (TTN)	XP_024308864.1:p.Phe13579SerfsTer4
XM_024453097.1:c.38078del (TTN)	XP_024308865.1:p.Phe12693SerfsTer4
XM_024453098.1:c.37997del (TTN)	XP_024308866.1:p.Phe12666SerfsTer4
XM_024453099.1:c.19760del (TTN)	XP_024308867.1:p.Phe6587SerfsTer4
XM_024453100.1:c.9614del (TTN)	XP_024308868.1:p.Phe3205SerfsTer4