Canonical Allele Identifier: CA2580064588

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2126261
• ClinVar RCV Id: RCV003044034

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578088del , CM000664.2:g.178578088del	GRCh38
NC_000002.11:g.179442815del , CM000664.1:g.179442815del	GRCh37
NC_000002.10:g.179151061del	NCBI36
NG_011618.3:g.257715del , LRG_391:g.257715del
NG_051363.1:g.60262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60723del (TTN)	ENSP00000343764.6:p.Glu20242LysfsTer14
ENST00000342175.11:c.41808del (TTN)	ENSP00000340554.6:p.Glu13937LysfsTer14
ENST00000359218.10:c.41607del (TTN)	ENSP00000352154.5:p.Glu13870LysfsTer14
ENST00000342175.10:c.41808del (TTN)	ENSP00000340554.6:p.Glu13937LysfsTer14
ENST00000342992.10:c.60723del (TTN)	ENSP00000343764.6:p.Glu20242LysfsTer14
ENST00000359218.9:c.41607del (TTN)	ENSP00000352154.5:p.Glu13870LysfsTer14
ENST00000460472.6:c.41232del (TTN)	ENSP00000434586.1:p.Glu13745LysfsTer14
ENST00000589042.5:c.68427del (TTN) MANE Select	ENSP00000467141.1:p.Glu22810LysfsTer14
ENST00000591111.5:c.63504del (TTN)	ENSP00000465570.1:p.Glu21169LysfsTer14
ENST00000615779.4:c.63504del (TTN)	ENSP00000483597.1:p.Glu21169LysfsTer14
NM_001256850.1:c.63504del (TTN)	NP_001243779.1:p.Glu21169LysfsTer14
NM_001267550.2:c.68427del (TTN) MANE Select	NP_001254479.2:p.Glu22810LysfsTer14
NM_003319.4:c.41232del (TTN)	NP_003310.4:p.Glu13745LysfsTer14
NM_133378.4:c.60723del (TTN)	NP_596869.4:p.Glu20242LysfsTer14
NM_133432.3:c.41607del (TTN)	NP_597676.3:p.Glu13870LysfsTer14
NM_133437.4:c.41808del (TTN)	NP_597681.4:p.Glu13937LysfsTer14
NR_038271.1:n.596+6639del (TTN-AS1)
NR_038272.1:n.2044-4484del (TTN-AS1)
XM_011511729.1:c.67524del (TTN)	XP_011510031.1:p.Glu22509LysfsTer14
XM_011511730.1:c.41418del (TTN)	XP_011510032.1:p.Glu13807LysfsTer14
XM_011511731.1:c.41277del (TTN)	XP_011510033.1:p.Glu13760LysfsTer14
XM_017004819.1:c.67320del (TTN)	XP_016860308.1:p.Glu22441LysfsTer14
XM_017004820.1:c.62718del (TTN)	XP_016860309.1:p.Glu20907LysfsTer14
XM_017004821.1:c.62715del (TTN)	XP_016860310.1:p.Glu20906LysfsTer14
XM_017004822.1:c.59757del (TTN)	XP_016860311.1:p.Glu19920LysfsTer14
XM_017004823.1:c.41373del (TTN)	XP_016860312.1:p.Glu13792LysfsTer14
XM_024453094.1:c.62868del (TTN)	XP_024308862.1:p.Glu20957LysfsTer14
XM_024453095.1:c.62865del (TTN)	XP_024308863.1:p.Glu20956LysfsTer14
XM_024453096.1:c.62298del (TTN)	XP_024308864.1:p.Glu20767LysfsTer14
XM_024453097.1:c.59640del (TTN)	XP_024308865.1:p.Glu19881LysfsTer14
XM_024453098.1:c.59559del (TTN)	XP_024308866.1:p.Glu19854LysfsTer14
XM_024453099.1:c.41322del (TTN)	XP_024308867.1:p.Glu13775LysfsTer14
XM_024453100.1:c.31176del (TTN)	XP_024308868.1:p.Glu10393LysfsTer14