Canonical Allele Identifier: CA2662129140

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567280-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567282del , CM000664.2:g.178567282del	GRCh38
NC_000002.11:g.179432009del , CM000664.1:g.179432009del	GRCh37
NC_000002.10:g.179140255del	NCBI36
NG_011618.3:g.268522del , LRG_391:g.268522del
NG_051363.1:g.49456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71147del (TTN)	ENSP00000343764.6:p.Leu23716Ter
ENST00000342175.11:c.52232del (TTN)	ENSP00000340554.6:p.Leu17411Ter
ENST00000359218.10:c.52031del (TTN)	ENSP00000352154.5:p.Leu17344Ter
ENST00000342175.10:c.52232del (TTN)	ENSP00000340554.6:p.Leu17411Ter
ENST00000342992.10:c.71147del (TTN)	ENSP00000343764.6:p.Leu23716Ter
ENST00000359218.9:c.52031del (TTN)	ENSP00000352154.5:p.Leu17344Ter
ENST00000460472.6:c.51656del (TTN)	ENSP00000434586.1:p.Leu17219Ter
ENST00000589042.5:c.78851del (TTN) MANE Select	ENSP00000467141.1:p.Leu26284Ter
ENST00000591111.5:c.73928del (TTN)	ENSP00000465570.1:p.Leu24643Ter
ENST00000615779.4:c.73928del (TTN)	ENSP00000483597.1:p.Leu24643Ter
NM_001256850.1:c.73928del (TTN)	NP_001243779.1:p.Leu24643Ter
NM_001267550.2:c.78851del (TTN) MANE Select	NP_001254479.2:p.Leu26284Ter
NM_003319.4:c.51656del (TTN)	NP_003310.4:p.Leu17219Ter
NM_133378.4:c.71147del (TTN)	NP_596869.4:p.Leu23716Ter
NM_133432.3:c.52031del (TTN)	NP_597676.3:p.Leu17344Ter
NM_133437.4:c.52232del (TTN)	NP_597681.4:p.Leu17411Ter
NR_038271.1:n.447-4018del (TTN-AS1)
NR_038272.1:n.2044-15290del (TTN-AS1)
XM_011511729.1:c.77948del (TTN)	XP_011510031.1:p.Leu25983Ter
XM_011511730.1:c.51842del (TTN)	XP_011510032.1:p.Leu17281Ter
XM_011511731.1:c.51701del (TTN)	XP_011510033.1:p.Leu17234Ter
XM_017004819.1:c.77744del (TTN)	XP_016860308.1:p.Leu25915Ter
XM_017004820.1:c.73142del (TTN)	XP_016860309.1:p.Leu24381Ter
XM_017004821.1:c.73139del (TTN)	XP_016860310.1:p.Leu24380Ter
XM_017004822.1:c.70181del (TTN)	XP_016860311.1:p.Leu23394Ter
XM_017004823.1:c.51797del (TTN)	XP_016860312.1:p.Leu17266Ter
XM_024453094.1:c.73292del (TTN)	XP_024308862.1:p.Leu24431Ter
XM_024453095.1:c.73289del (TTN)	XP_024308863.1:p.Leu24430Ter
XM_024453096.1:c.72722del (TTN)	XP_024308864.1:p.Leu24241Ter
XM_024453097.1:c.70064del (TTN)	XP_024308865.1:p.Leu23355Ter
XM_024453098.1:c.69983del (TTN)	XP_024308866.1:p.Leu23328Ter
XM_024453099.1:c.51746del (TTN)	XP_024308867.1:p.Leu17249Ter
XM_024453100.1:c.41600del (TTN)	XP_024308868.1:p.Leu13867Ter