Canonical Allele Identifier: CA915942139

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 796406
• ClinVar RCV Id: RCV000979793

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534020_178534021delinsCA , CM000664.2:g.178534020_178534021delinsCA	GRCh38
NC_000002.11:g.179398747_179398748delinsCA , CM000664.1:g.179398747_179398748delinsCA	GRCh37
NC_000002.10:g.179106993_179106994delinsCA	NCBI36
NG_011618.3:g.301782_301783delinsTG , LRG_391:g.301782_301783delinsTG
NG_051363.1:g.16194_16195delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.94890_94891delinsTG (TTN)	ENSP00000343764.6:p.Ile31631Val
ENST00000342175.11:c.75975_75976delinsTG (TTN)	ENSP00000340554.6:p.Ile25326Val
ENST00000359218.10:c.75774_75775delinsTG (TTN)	ENSP00000352154.5:p.Ile25259Val
ENST00000342175.10:c.75975_75976delinsTG (TTN)	ENSP00000340554.6:p.Ile25326Val
ENST00000342992.10:c.94890_94891delinsTG (TTN)	ENSP00000343764.6:p.Ile31631Val
ENST00000359218.9:c.75774_75775delinsTG (TTN)	ENSP00000352154.5:p.Ile25259Val
ENST00000460472.6:c.75399_75400delinsTG (TTN)	ENSP00000434586.1:p.Ile25134Val
ENST00000589042.5:c.102594_102595delinsTG (TTN) MANE Select	ENSP00000467141.1:p.Ile34199Val
ENST00000591111.5:c.97671_97672delinsTG (TTN)	ENSP00000465570.1:p.Ile32558Val
ENST00000615779.4:c.97671_97672delinsTG (TTN)	ENSP00000483597.1:p.Ile32558Val
NM_001256850.1:c.97671_97672delinsTG (TTN)	NP_001243779.1:p.Ile32558Val
NM_001267550.2:c.102594_102595delinsTG (TTN) MANE Select	NP_001254479.2:p.Ile34199Val
NM_003319.4:c.75399_75400delinsTG (TTN)	NP_003310.4:p.Ile25134Val
NM_133378.4:c.94890_94891delinsTG (TTN)	NP_596869.4:p.Ile31631Val
NM_133432.3:c.75774_75775delinsTG (TTN)	NP_597676.3:p.Ile25259Val
NM_133437.4:c.75975_75976delinsTG (TTN)	NP_597681.4:p.Ile25326Val
NR_038271.1:n.446+10384_446+10385delinsCA (TTN-AS1)
NR_038272.1:n.220-1712_220-1711delinsCA (TTN-AS1)
XM_011511729.1:c.101691_101692delinsTG (TTN)	XP_011510031.1:p.Ile33898Val
XM_011511730.1:c.75585_75586delinsTG (TTN)	XP_011510032.1:p.Ile25196Val
XM_011511731.1:c.75444_75445delinsTG (TTN)	XP_011510033.1:p.Ile25149Val
XM_017004819.1:c.101487_101488delinsTG (TTN)	XP_016860308.1:p.Ile33830Val
XM_017004820.1:c.96885_96886delinsTG (TTN)	XP_016860309.1:p.Ile32296Val
XM_017004821.1:c.96882_96883delinsTG (TTN)	XP_016860310.1:p.Ile32295Val
XM_017004822.1:c.93924_93925delinsTG (TTN)	XP_016860311.1:p.Ile31309Val
XM_017004823.1:c.75540_75541delinsTG (TTN)	XP_016860312.1:p.Ile25181Val
XM_024453094.1:c.97035_97036delinsTG (TTN)	XP_024308862.1:p.Ile32346Val
XM_024453095.1:c.97032_97033delinsTG (TTN)	XP_024308863.1:p.Ile32345Val
XM_024453096.1:c.96465_96466delinsTG (TTN)	XP_024308864.1:p.Ile32156Val
XM_024453097.1:c.93807_93808delinsTG (TTN)	XP_024308865.1:p.Ile31270Val
XM_024453098.1:c.93726_93727delinsTG (TTN)	XP_024308866.1:p.Ile31243Val
XM_024453099.1:c.75489_75490delinsTG (TTN)	XP_024308867.1:p.Ile25164Val
XM_024453100.1:c.65343_65344delinsTG (TTN)	XP_024308868.1:p.Ile21782Val