Canonical Allele Identifier: CA346772

Gene: TTN TTN-AS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178612911del , CM000664.2:g.178612911del	GRCh38
NC_000002.11:g.179477638del , CM000664.1:g.179477638del	GRCh37
NC_000002.10:g.179185883del	NCBI36
NG_011618.3:g.222895del , LRG_391:g.222895del
NG_051363.1:g.95085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42109del (TTN)	ENSP00000343764.6:p.Val14037PhefsTer24
ENST00000342175.11:c.23194del (TTN)	ENSP00000340554.6:p.Val7732PhefsTer24
ENST00000359218.10:c.22993del (TTN)	ENSP00000352154.5:p.Val7665PhefsTer24
ENST00000342175.10:c.23194del (TTN)	ENSP00000340554.6:p.Val7732PhefsTer24
ENST00000342992.10:c.42109del (TTN)	ENSP00000343764.6:p.Val14037PhefsTer24
ENST00000359218.9:c.22993del (TTN)	ENSP00000352154.5:p.Val7665PhefsTer24
ENST00000460472.6:c.22618del (TTN)	ENSP00000434586.1:p.Val7540PhefsTer24
ENST00000589042.5:c.49813del (TTN) MANE Select	ENSP00000467141.1:p.Val16605PhefsTer24
ENST00000591111.5:c.44890del (TTN)	ENSP00000465570.1:p.Val14964PhefsTer24
ENST00000615779.4:c.44890del (TTN)	ENSP00000483597.1:p.Val14964PhefsTer24
NM_001256850.1:c.44890del (TTN)	NP_001243779.1:p.Val14964PhefsTer24
NM_001267550.2:c.49813del (TTN) MANE Select	NP_001254479.2:p.Val16605PhefsTer24
NM_003319.4:c.22618del (TTN)	NP_003310.4:p.Val7540PhefsTer24
NM_133378.4:c.42109del (TTN)	NP_596869.4:p.Val14037PhefsTer24
NM_133432.3:c.22993del (TTN)	NP_597676.3:p.Val7665PhefsTer24
NM_133437.4:c.23194del (TTN)	NP_597681.4:p.Val7732PhefsTer24
NR_038271.1:n.783-1124del (TTN-AS1)
XM_011511729.1:c.48910del (TTN)	XP_011510031.1:p.Val16304PhefsTer24
XM_011511730.1:c.22804del (TTN)	XP_011510032.1:p.Val7602PhefsTer24
XM_011511731.1:c.22663del (TTN)	XP_011510033.1:p.Val7555PhefsTer24
XM_017004819.1:c.48706del (TTN)	XP_016860308.1:p.Val16236PhefsTer24
XM_017004820.1:c.44104del (TTN)	XP_016860309.1:p.Val14702PhefsTer24
XM_017004821.1:c.44101del (TTN)	XP_016860310.1:p.Val14701PhefsTer24
XM_017004822.1:c.41143del (TTN)	XP_016860311.1:p.Val13715PhefsTer24
XM_017004823.1:c.22759del (TTN)	XP_016860312.1:p.Val7587PhefsTer24
XM_024453094.1:c.44254del (TTN)	XP_024308862.1:p.Val14752PhefsTer24
XM_024453095.1:c.44251del (TTN)	XP_024308863.1:p.Val14751PhefsTer24
XM_024453096.1:c.43684del (TTN)	XP_024308864.1:p.Val14562PhefsTer24
XM_024453097.1:c.41026del (TTN)	XP_024308865.1:p.Val13676PhefsTer24
XM_024453098.1:c.40945del (TTN)	XP_024308866.1:p.Val13649PhefsTer24
XM_024453099.1:c.22708del (TTN)	XP_024308867.1:p.Val7570PhefsTer24
XM_024453100.1:c.12562del (TTN)	XP_024308868.1:p.Val4188PhefsTer24