Canonical Allele Identifier: CA645515421

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5348038 ; COSM5348039 ; COSM5348040 ; COSM5348041

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569003del , CM000664.2:g.178569003del	GRCh38
NC_000002.11:g.179433730del , CM000664.1:g.179433730del	GRCh37
NC_000002.10:g.179141976del	NCBI36
NG_011618.3:g.266800del , LRG_391:g.266800del
NG_051363.1:g.51177del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69425del (TTN)	ENSP00000343764.6:p.Val23142AlafsTer8
ENST00000342175.11:c.50510del (TTN)	ENSP00000340554.6:p.Val16837AlafsTer8
ENST00000359218.10:c.50309del (TTN)	ENSP00000352154.5:p.Val16770AlafsTer8
ENST00000342175.10:c.50510del (TTN)	ENSP00000340554.6:p.Val16837AlafsTer8
ENST00000342992.10:c.69425del (TTN)	ENSP00000343764.6:p.Val23142AlafsTer8
ENST00000359218.9:c.50309del (TTN)	ENSP00000352154.5:p.Val16770AlafsTer8
ENST00000460472.6:c.49934del (TTN)	ENSP00000434586.1:p.Val16645AlafsTer8
ENST00000589042.5:c.77129del (TTN) MANE Select	ENSP00000467141.1:p.Val25710AlafsTer8
ENST00000591111.5:c.72206del (TTN)	ENSP00000465570.1:p.Val24069AlafsTer8
ENST00000615779.4:c.72206del (TTN)	ENSP00000483597.1:p.Val24069AlafsTer8
NM_001256850.1:c.72206del (TTN)	NP_001243779.1:p.Val24069AlafsTer8
NM_001267550.2:c.77129del (TTN) MANE Select	NP_001254479.2:p.Val25710AlafsTer8
NM_003319.4:c.49934del (TTN)	NP_003310.4:p.Val16645AlafsTer8
NM_133378.4:c.69425del (TTN)	NP_596869.4:p.Val23142AlafsTer8
NM_133432.3:c.50309del (TTN)	NP_597676.3:p.Val16770AlafsTer8
NM_133437.4:c.50510del (TTN)	NP_597681.4:p.Val16837AlafsTer8
NR_038271.1:n.447-2297del (TTN-AS1)
NR_038272.1:n.2044-13569del (TTN-AS1)
XM_011511729.1:c.76226del (TTN)	XP_011510031.1:p.Val25409AlafsTer8
XM_011511730.1:c.50120del (TTN)	XP_011510032.1:p.Val16707AlafsTer8
XM_011511731.1:c.49979del (TTN)	XP_011510033.1:p.Val16660AlafsTer8
XM_017004819.1:c.76022del (TTN)	XP_016860308.1:p.Val25341AlafsTer8
XM_017004820.1:c.71420del (TTN)	XP_016860309.1:p.Val23807AlafsTer8
XM_017004821.1:c.71417del (TTN)	XP_016860310.1:p.Val23806AlafsTer8
XM_017004822.1:c.68459del (TTN)	XP_016860311.1:p.Val22820AlafsTer8
XM_017004823.1:c.50075del (TTN)	XP_016860312.1:p.Val16692AlafsTer8
XM_024453094.1:c.71570del (TTN)	XP_024308862.1:p.Val23857AlafsTer8
XM_024453095.1:c.71567del (TTN)	XP_024308863.1:p.Val23856AlafsTer8
XM_024453096.1:c.71000del (TTN)	XP_024308864.1:p.Val23667AlafsTer8
XM_024453097.1:c.68342del (TTN)	XP_024308865.1:p.Val22781AlafsTer8
XM_024453098.1:c.68261del (TTN)	XP_024308866.1:p.Val22754AlafsTer8
XM_024453099.1:c.50024del (TTN)	XP_024308867.1:p.Val16675AlafsTer8
XM_024453100.1:c.39878del (TTN)	XP_024308868.1:p.Val13293AlafsTer8