Canonical Allele Identifier: CA645517732

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2952180
• ClinVar RCV Id: RCV003815331
• COSMIC: COSM1325729 ; COSM1325730 ; COSM1325731 ; COSM1325732

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527124_178527132del , CM000664.2:g.178527124_178527132del	GRCh38
NC_000002.11:g.179391851_179391859del , CM000664.1:g.179391851_179391859del	GRCh37
NC_000002.10:g.179100097_179100105del	NCBI36
NG_011618.3:g.308676_308684del , LRG_391:g.308676_308684del
NG_051363.1:g.9298_9306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100157_100165del (TTN)	ENSP00000343764.6:p.Thr33386_Leu33388del
ENST00000342175.11:c.81242_81250del (TTN)	ENSP00000340554.6:p.Thr27081_Leu27083del
ENST00000359218.10:c.81041_81049del (TTN)	ENSP00000352154.5:p.Thr27014_Leu27016del
ENST00000342175.10:c.81242_81250del (TTN)	ENSP00000340554.6:p.Thr27081_Leu27083del
ENST00000342992.10:c.100157_100165del (TTN)	ENSP00000343764.6:p.Thr33386_Leu33388del
ENST00000359218.9:c.81041_81049del (TTN)	ENSP00000352154.5:p.Thr27014_Leu27016del
ENST00000460472.6:c.80666_80674del (TTN)	ENSP00000434586.1:p.Thr26889_Leu26891del
ENST00000589042.5:c.107861_107869del (TTN) MANE Select	ENSP00000467141.1:p.Thr35954_Leu35956del
ENST00000591111.5:c.102938_102946del (TTN)	ENSP00000465570.1:p.Thr34313_Leu34315del
ENST00000615779.4:c.102938_102946del (TTN)	ENSP00000483597.1:p.Thr34313_Leu34315del
NM_001256850.1:c.102938_102946del (TTN)	NP_001243779.1:p.Thr34313_Leu34315del
NM_001267550.2:c.107861_107869del (TTN) MANE Select	NP_001254479.2:p.Thr35954_Leu35956del
NM_003319.4:c.80666_80674del (TTN)	NP_003310.4:p.Thr26889_Leu26891del
NM_133378.4:c.100157_100165del (TTN)	NP_596869.4:p.Thr33386_Leu33388del
NM_133432.3:c.81041_81049del (TTN)	NP_597676.3:p.Thr27014_Leu27016del
NM_133437.4:c.81242_81250del (TTN)	NP_597681.4:p.Thr27081_Leu27083del
NR_038271.1:n.446+3488_446+3496del (TTN-AS1)
NR_038272.1:n.219+3488_219+3496del (TTN-AS1)
XM_011511729.1:c.106958_106966del (TTN)	XP_011510031.1:p.Thr35653_Leu35655del
XM_011511730.1:c.80852_80860del (TTN)	XP_011510032.1:p.Thr26951_Leu26953del
XM_011511731.1:c.80711_80719del (TTN)	XP_011510033.1:p.Thr26904_Leu26906del
XM_017004819.1:c.106754_106762del (TTN)	XP_016860308.1:p.Thr35585_Leu35587del
XM_017004820.1:c.102152_102160del (TTN)	XP_016860309.1:p.Thr34051_Leu34053del
XM_017004821.1:c.102149_102157del (TTN)	XP_016860310.1:p.Thr34050_Leu34052del
XM_017004822.1:c.99191_99199del (TTN)	XP_016860311.1:p.Thr33064_Leu33066del
XM_017004823.1:c.80807_80815del (TTN)	XP_016860312.1:p.Thr26936_Leu26938del
XM_024453094.1:c.102302_102310del (TTN)	XP_024308862.1:p.Thr34101_Leu34103del
XM_024453095.1:c.102299_102307del (TTN)	XP_024308863.1:p.Thr34100_Leu34102del
XM_024453096.1:c.101732_101740del (TTN)	XP_024308864.1:p.Thr33911_Leu33913del
XM_024453097.1:c.99074_99082del (TTN)	XP_024308865.1:p.Thr33025_Leu33027del
XM_024453098.1:c.98993_99001del (TTN)	XP_024308866.1:p.Thr32998_Leu33000del
XM_024453099.1:c.80756_80764del (TTN)	XP_024308867.1:p.Thr26919_Leu26921del
XM_024453100.1:c.70610_70618del (TTN)	XP_024308868.1:p.Thr23537_Leu23539del