Canonical Allele Identifier: CA645529220

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM4969860 ; COSM4969861 ; COSM4969862 ; COSM4969863

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574796del , CM000664.2:g.178574796del	GRCh38
NC_000002.11:g.179439523del , CM000664.1:g.179439523del	GRCh37
NC_000002.10:g.179147769del	NCBI36
NG_011618.3:g.261008del , LRG_391:g.261008del
NG_051363.1:g.56970del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63633del (TTN)	ENSP00000343764.6:p.Thr21212ProfsTer16
ENST00000342175.11:c.44718del (TTN)	ENSP00000340554.6:p.Thr14907ProfsTer16
ENST00000359218.10:c.44517del (TTN)	ENSP00000352154.5:p.Thr14840ProfsTer16
ENST00000342175.10:c.44718del (TTN)	ENSP00000340554.6:p.Thr14907ProfsTer16
ENST00000342992.10:c.63633del (TTN)	ENSP00000343764.6:p.Thr21212ProfsTer16
ENST00000359218.9:c.44517del (TTN)	ENSP00000352154.5:p.Thr14840ProfsTer16
ENST00000460472.6:c.44142del (TTN)	ENSP00000434586.1:p.Thr14715ProfsTer16
ENST00000589042.5:c.71337del (TTN) MANE Select	ENSP00000467141.1:p.Thr23780ProfsTer16
ENST00000591111.5:c.66414del (TTN)	ENSP00000465570.1:p.Thr22139ProfsTer16
ENST00000615779.4:c.66414del (TTN)	ENSP00000483597.1:p.Thr22139ProfsTer16
NM_001256850.1:c.66414del (TTN)	NP_001243779.1:p.Thr22139ProfsTer16
NM_001267550.2:c.71337del (TTN) MANE Select	NP_001254479.2:p.Thr23780ProfsTer16
NM_003319.4:c.44142del (TTN)	NP_003310.4:p.Thr14715ProfsTer16
NM_133378.4:c.63633del (TTN)	NP_596869.4:p.Thr21212ProfsTer16
NM_133432.3:c.44517del (TTN)	NP_597676.3:p.Thr14840ProfsTer16
NM_133437.4:c.44718del (TTN)	NP_597681.4:p.Thr14907ProfsTer16
NR_038271.1:n.596+3347del (TTN-AS1)
NR_038272.1:n.2044-7776del (TTN-AS1)
XM_011511729.1:c.70434del (TTN)	XP_011510031.1:p.Thr23479ProfsTer16
XM_011511730.1:c.44328del (TTN)	XP_011510032.1:p.Thr14777ProfsTer16
XM_011511731.1:c.44187del (TTN)	XP_011510033.1:p.Thr14730ProfsTer16
XM_017004819.1:c.70230del (TTN)	XP_016860308.1:p.Thr23411ProfsTer16
XM_017004820.1:c.65628del (TTN)	XP_016860309.1:p.Thr21877ProfsTer16
XM_017004821.1:c.65625del (TTN)	XP_016860310.1:p.Thr21876ProfsTer16
XM_017004822.1:c.62667del (TTN)	XP_016860311.1:p.Thr20890ProfsTer16
XM_017004823.1:c.44283del (TTN)	XP_016860312.1:p.Thr14762ProfsTer16
XM_024453094.1:c.65778del (TTN)	XP_024308862.1:p.Thr21927ProfsTer16
XM_024453095.1:c.65775del (TTN)	XP_024308863.1:p.Thr21926ProfsTer16
XM_024453096.1:c.65208del (TTN)	XP_024308864.1:p.Thr21737ProfsTer16
XM_024453097.1:c.62550del (TTN)	XP_024308865.1:p.Thr20851ProfsTer16
XM_024453098.1:c.62469del (TTN)	XP_024308866.1:p.Thr20824ProfsTer16
XM_024453099.1:c.44232del (TTN)	XP_024308867.1:p.Thr14745ProfsTer16
XM_024453100.1:c.34086del (TTN)	XP_024308868.1:p.Thr11363ProfsTer16