Canonical Allele Identifier: CA1139657417

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 934743
• ClinVar RCV Id: RCV001203192
• dbSNP Id: rs1697311515

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546680_178546681del , CM000664.2:g.178546680_178546681del	GRCh38
NC_000002.11:g.179411407_179411408del , CM000664.1:g.179411407_179411408del	GRCh37
NC_000002.10:g.179119653_179119654del	NCBI36
NG_011618.3:g.289122_289123del , LRG_391:g.289122_289123del
NG_051363.1:g.28854_28855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87043_87044del (TTN)	ENSP00000343764.6:p.Arg29015CysfsTer11
ENST00000342175.11:c.68128_68129del (TTN)	ENSP00000340554.6:p.Arg22710CysfsTer11
ENST00000359218.10:c.67927_67928del (TTN)	ENSP00000352154.5:p.Arg22643CysfsTer11
ENST00000342175.10:c.68128_68129del (TTN)	ENSP00000340554.6:p.Arg22710CysfsTer11
ENST00000342992.10:c.87043_87044del (TTN)	ENSP00000343764.6:p.Arg29015CysfsTer11
ENST00000359218.9:c.67927_67928del (TTN)	ENSP00000352154.5:p.Arg22643CysfsTer11
ENST00000460472.6:c.67552_67553del (TTN)	ENSP00000434586.1:p.Arg22518CysfsTer11
ENST00000589042.5:c.94747_94748del (TTN) MANE Select	ENSP00000467141.1:p.Arg31583CysfsTer11
ENST00000591111.5:c.89824_89825del (TTN)	ENSP00000465570.1:p.Arg29942CysfsTer11
ENST00000615779.4:c.89824_89825del (TTN)	ENSP00000483597.1:p.Arg29942CysfsTer11
NM_001256850.1:c.89824_89825del (TTN)	NP_001243779.1:p.Arg29942CysfsTer11
NM_001267550.2:c.94747_94748del (TTN) MANE Select	NP_001254479.2:p.Arg31583CysfsTer11
NM_003319.4:c.67552_67553del (TTN)	NP_003310.4:p.Arg22518CysfsTer11
NM_133378.4:c.87043_87044del (TTN)	NP_596869.4:p.Arg29015CysfsTer11
NM_133432.3:c.67927_67928del (TTN)	NP_597676.3:p.Arg22643CysfsTer11
NM_133437.4:c.68128_68129del (TTN)	NP_597681.4:p.Arg22710CysfsTer11
NR_038271.1:n.446+23044_446+23045del (TTN-AS1)
NR_038272.1:n.2043+4319_2043+4320del (TTN-AS1)
XM_011511729.1:c.93844_93845del (TTN)	XP_011510031.1:p.Arg31282CysfsTer11
XM_011511730.1:c.67738_67739del (TTN)	XP_011510032.1:p.Arg22580CysfsTer11
XM_011511731.1:c.67597_67598del (TTN)	XP_011510033.1:p.Arg22533CysfsTer11
XM_017004819.1:c.93640_93641del (TTN)	XP_016860308.1:p.Arg31214CysfsTer11
XM_017004820.1:c.89038_89039del (TTN)	XP_016860309.1:p.Arg29680CysfsTer11
XM_017004821.1:c.89035_89036del (TTN)	XP_016860310.1:p.Arg29679CysfsTer11
XM_017004822.1:c.86077_86078del (TTN)	XP_016860311.1:p.Arg28693CysfsTer11
XM_017004823.1:c.67693_67694del (TTN)	XP_016860312.1:p.Arg22565CysfsTer11
XM_024453094.1:c.89188_89189del (TTN)	XP_024308862.1:p.Arg29730CysfsTer11
XM_024453095.1:c.89185_89186del (TTN)	XP_024308863.1:p.Arg29729CysfsTer11
XM_024453096.1:c.88618_88619del (TTN)	XP_024308864.1:p.Arg29540CysfsTer11
XM_024453097.1:c.85960_85961del (TTN)	XP_024308865.1:p.Arg28654CysfsTer11
XM_024453098.1:c.85879_85880del (TTN)	XP_024308866.1:p.Arg28627CysfsTer11
XM_024453099.1:c.67642_67643del (TTN)	XP_024308867.1:p.Arg22548CysfsTer11
XM_024453100.1:c.57496_57497del (TTN)	XP_024308868.1:p.Arg19166CysfsTer11