Canonical Allele Identifier: CA2499215336

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1068134
• ClinVar RCV Id: RCV001379588
• dbSNP Id: rs2154158200

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559830_178559842del , CM000664.2:g.178559830_178559842del	GRCh38
NC_000002.11:g.179424557_179424569del , CM000664.1:g.179424557_179424569del	GRCh37
NC_000002.10:g.179132803_179132815del	NCBI36
NG_011618.3:g.275961_275973del , LRG_391:g.275961_275973del
NG_051363.1:g.42004_42016del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78586_78598del (TTN)	ENSP00000343764.6:p.Ile26197ValfsTer6
ENST00000342175.11:c.59671_59683del (TTN)	ENSP00000340554.6:p.Ile19892ValfsTer6
ENST00000359218.10:c.59470_59482del (TTN)	ENSP00000352154.5:p.Ile19825ValfsTer6
ENST00000342175.10:c.59671_59683del (TTN)	ENSP00000340554.6:p.Ile19892ValfsTer6
ENST00000342992.10:c.78586_78598del (TTN)	ENSP00000343764.6:p.Ile26197ValfsTer6
ENST00000359218.9:c.59470_59482del (TTN)	ENSP00000352154.5:p.Ile19825ValfsTer6
ENST00000460472.6:c.59095_59107del (TTN)	ENSP00000434586.1:p.Ile19700ValfsTer6
ENST00000589042.5:c.86290_86302del (TTN) MANE Select	ENSP00000467141.1:p.Ile28765ValfsTer6
ENST00000591111.5:c.81367_81379del (TTN)	ENSP00000465570.1:p.Ile27124ValfsTer6
ENST00000615779.4:c.81367_81379del (TTN)	ENSP00000483597.1:p.Ile27124ValfsTer6
NM_001256850.1:c.81367_81379del (TTN)	NP_001243779.1:p.Ile27124ValfsTer6
NM_001267550.2:c.86290_86302del (TTN) MANE Select	NP_001254479.2:p.Ile28765ValfsTer6
NM_003319.4:c.59095_59107del (TTN)	NP_003310.4:p.Ile19700ValfsTer6
NM_133378.4:c.78586_78598del (TTN)	NP_596869.4:p.Ile26197ValfsTer6
NM_133432.3:c.59470_59482del (TTN)	NP_597676.3:p.Ile19825ValfsTer6
NM_133437.4:c.59671_59683del (TTN)	NP_597681.4:p.Ile19892ValfsTer6
NR_038271.1:n.447-11470_447-11458del (TTN-AS1)
NR_038272.1:n.2043+17469_2043+17481del (TTN-AS1)
XM_011511729.1:c.85387_85399del (TTN)	XP_011510031.1:p.Ile28464ValfsTer6
XM_011511730.1:c.59281_59293del (TTN)	XP_011510032.1:p.Ile19762ValfsTer6
XM_011511731.1:c.59140_59152del (TTN)	XP_011510033.1:p.Ile19715ValfsTer6
XM_017004819.1:c.85183_85195del (TTN)	XP_016860308.1:p.Ile28396ValfsTer6
XM_017004820.1:c.80581_80593del (TTN)	XP_016860309.1:p.Ile26862ValfsTer6
XM_017004821.1:c.80578_80590del (TTN)	XP_016860310.1:p.Ile26861ValfsTer6
XM_017004822.1:c.77620_77632del (TTN)	XP_016860311.1:p.Ile25875ValfsTer6
XM_017004823.1:c.59236_59248del (TTN)	XP_016860312.1:p.Ile19747ValfsTer6
XM_024453094.1:c.80731_80743del (TTN)	XP_024308862.1:p.Ile26912ValfsTer6
XM_024453095.1:c.80728_80740del (TTN)	XP_024308863.1:p.Ile26911ValfsTer6
XM_024453096.1:c.80161_80173del (TTN)	XP_024308864.1:p.Ile26722ValfsTer6
XM_024453097.1:c.77503_77515del (TTN)	XP_024308865.1:p.Ile25836ValfsTer6
XM_024453098.1:c.77422_77434del (TTN)	XP_024308866.1:p.Ile25809ValfsTer6
XM_024453099.1:c.59185_59197del (TTN)	XP_024308867.1:p.Ile19730ValfsTer6
XM_024453100.1:c.49039_49051del (TTN)	XP_024308868.1:p.Ile16348ValfsTer6