Canonical Allele Identifier: CA10587451

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 263445
• ClinVar RCV Id: RCV000242071
• dbSNP Id: rs886038807
• MyVariant Identifiers: chr2:g.179411498_179411500del (hg19) ; chr2:g.178546771_178546773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546773_178546775del , CM000664.2:g.178546773_178546775del	GRCh38
NC_000002.11:g.179411500_179411502del , CM000664.1:g.179411500_179411502del	GRCh37
NC_000002.10:g.179119746_179119748del	NCBI36
NG_011618.3:g.289030_289032del , LRG_391:g.289030_289032del
NG_051363.1:g.28947_28949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86951_86953del (TTN)	ENSP00000343764.6:p.Gly28984del
ENST00000342175.11:c.68036_68038del (TTN)	ENSP00000340554.6:p.Gly22679del
ENST00000359218.10:c.67835_67837del (TTN)	ENSP00000352154.5:p.Gly22612del
ENST00000342175.10:c.68036_68038del (TTN)	ENSP00000340554.6:p.Gly22679del
ENST00000342992.10:c.86951_86953del (TTN)	ENSP00000343764.6:p.Gly28984del
ENST00000359218.9:c.67835_67837del (TTN)	ENSP00000352154.5:p.Gly22612del
ENST00000460472.6:c.67460_67462del (TTN)	ENSP00000434586.1:p.Gly22487del
ENST00000589042.5:c.94655_94657del (TTN) MANE Select	ENSP00000467141.1:p.Gly31552del
ENST00000591111.5:c.89732_89734del (TTN)	ENSP00000465570.1:p.Gly29911del
ENST00000615779.4:c.89732_89734del (TTN)	ENSP00000483597.1:p.Gly29911del
NM_001256850.1:c.89732_89734del (TTN)	NP_001243779.1:p.Gly29911del
NM_001267550.2:c.94655_94657del (TTN) MANE Select	NP_001254479.2:p.Gly31552del
NM_003319.4:c.67460_67462del (TTN)	NP_003310.4:p.Gly22487del
NM_133378.4:c.86951_86953del (TTN)	NP_596869.4:p.Gly28984del
NM_133432.3:c.67835_67837del (TTN)	NP_597676.3:p.Gly22612del
NM_133437.4:c.68036_68038del (TTN)	NP_597681.4:p.Gly22679del
NR_038271.1:n.446+23137_446+23139del (TTN-AS1)
NR_038272.1:n.2043+4412_2043+4414del (TTN-AS1)
XM_011511729.1:c.93752_93754del (TTN)	XP_011510031.1:p.Gly31251del
XM_011511730.1:c.67646_67648del (TTN)	XP_011510032.1:p.Gly22549del
XM_011511731.1:c.67505_67507del (TTN)	XP_011510033.1:p.Gly22502del
XM_017004819.1:c.93548_93550del (TTN)	XP_016860308.1:p.Gly31183del
XM_017004820.1:c.88946_88948del (TTN)	XP_016860309.1:p.Gly29649del
XM_017004821.1:c.88943_88945del (TTN)	XP_016860310.1:p.Gly29648del
XM_017004822.1:c.85985_85987del (TTN)	XP_016860311.1:p.Gly28662del
XM_017004823.1:c.67601_67603del (TTN)	XP_016860312.1:p.Gly22534del
XM_024453094.1:c.89096_89098del (TTN)	XP_024308862.1:p.Gly29699del
XM_024453095.1:c.89093_89095del (TTN)	XP_024308863.1:p.Gly29698del
XM_024453096.1:c.88526_88528del (TTN)	XP_024308864.1:p.Gly29509del
XM_024453097.1:c.85868_85870del (TTN)	XP_024308865.1:p.Gly28623del
XM_024453098.1:c.85787_85789del (TTN)	XP_024308866.1:p.Gly28596del
XM_024453099.1:c.67550_67552del (TTN)	XP_024308867.1:p.Gly22517del
XM_024453100.1:c.57404_57406del (TTN)	XP_024308868.1:p.Gly19135del