Canonical Allele Identifier: CA2580064616

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1760287
• ClinVar RCV Id: RCV002400663

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532225del , CM000664.2:g.178532225del	GRCh38
NC_000002.11:g.179396952del , CM000664.1:g.179396952del	GRCh37
NC_000002.10:g.179105198del	NCBI36
NG_011618.3:g.303581del , LRG_391:g.303581del
NG_051363.1:g.14399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96689del (TTN)	ENSP00000343764.6:p.Lys32230SerfsTer12
ENST00000342175.11:c.77774del (TTN)	ENSP00000340554.6:p.Lys25925SerfsTer12
ENST00000359218.10:c.77573del (TTN)	ENSP00000352154.5:p.Lys25858SerfsTer12
ENST00000342175.10:c.77774del (TTN)	ENSP00000340554.6:p.Lys25925SerfsTer12
ENST00000342992.10:c.96689del (TTN)	ENSP00000343764.6:p.Lys32230SerfsTer12
ENST00000359218.9:c.77573del (TTN)	ENSP00000352154.5:p.Lys25858SerfsTer12
ENST00000460472.6:c.77198del (TTN)	ENSP00000434586.1:p.Lys25733SerfsTer12
ENST00000589042.5:c.104393del (TTN) MANE Select	ENSP00000467141.1:p.Lys34798SerfsTer12
ENST00000591111.5:c.99470del (TTN)	ENSP00000465570.1:p.Lys33157SerfsTer12
ENST00000615779.4:c.99470del (TTN)	ENSP00000483597.1:p.Lys33157SerfsTer12
NM_001256850.1:c.99470del (TTN)	NP_001243779.1:p.Lys33157SerfsTer12
NM_001267550.2:c.104393del (TTN) MANE Select	NP_001254479.2:p.Lys34798SerfsTer12
NM_003319.4:c.77198del (TTN)	NP_003310.4:p.Lys25733SerfsTer12
NM_133378.4:c.96689del (TTN)	NP_596869.4:p.Lys32230SerfsTer12
NM_133432.3:c.77573del (TTN)	NP_597676.3:p.Lys25858SerfsTer12
NM_133437.4:c.77774del (TTN)	NP_597681.4:p.Lys25925SerfsTer12
NR_038271.1:n.446+8589del (TTN-AS1)
NR_038272.1:n.220-3507del (TTN-AS1)
XM_011511729.1:c.103490del (TTN)	XP_011510031.1:p.Lys34497SerfsTer12
XM_011511730.1:c.77384del (TTN)	XP_011510032.1:p.Lys25795SerfsTer12
XM_011511731.1:c.77243del (TTN)	XP_011510033.1:p.Lys25748SerfsTer12
XM_017004819.1:c.103286del (TTN)	XP_016860308.1:p.Lys34429SerfsTer12
XM_017004820.1:c.98684del (TTN)	XP_016860309.1:p.Lys32895SerfsTer12
XM_017004821.1:c.98681del (TTN)	XP_016860310.1:p.Lys32894SerfsTer12
XM_017004822.1:c.95723del (TTN)	XP_016860311.1:p.Lys31908SerfsTer12
XM_017004823.1:c.77339del (TTN)	XP_016860312.1:p.Lys25780SerfsTer12
XM_024453094.1:c.98834del (TTN)	XP_024308862.1:p.Lys32945SerfsTer12
XM_024453095.1:c.98831del (TTN)	XP_024308863.1:p.Lys32944SerfsTer12
XM_024453096.1:c.98264del (TTN)	XP_024308864.1:p.Lys32755SerfsTer12
XM_024453097.1:c.95606del (TTN)	XP_024308865.1:p.Lys31869SerfsTer12
XM_024453098.1:c.95525del (TTN)	XP_024308866.1:p.Lys31842SerfsTer12
XM_024453099.1:c.77288del (TTN)	XP_024308867.1:p.Lys25763SerfsTer12
XM_024453100.1:c.67142del (TTN)	XP_024308868.1:p.Lys22381SerfsTer12