Canonical Allele Identifier: CA2825001015

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 3223330
• ClinVar RCV Id: RCV004508685

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549809_178549811delinsAGATGACT , CM000664.2:g.178549809_178549811delinsAGATGACT	GRCh38
NC_000002.11:g.179414536_179414538delinsAGATGACT , CM000664.1:g.179414536_179414538delinsAGATGACT	GRCh37
NC_000002.10:g.179122782_179122784delinsAGATGACT	NCBI36
NG_011618.3:g.285992_285994delinsAGTCATCT , LRG_391:g.285992_285994delinsAGTCATCT
NG_051363.1:g.31983_31985delinsAGATGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84207_84209delinsAGTCATCT (TTN)	ENSP00000343764.6:p.Met28069IlefsTer18
ENST00000342175.11:c.65292_65294delinsAGTCATCT (TTN)	ENSP00000340554.6:p.Met21764IlefsTer18
ENST00000359218.10:c.65091_65093delinsAGTCATCT (TTN)	ENSP00000352154.5:p.Met21697IlefsTer18
ENST00000342175.10:c.65292_65294delinsAGTCATCT (TTN)	ENSP00000340554.6:p.Met21764IlefsTer18
ENST00000342992.10:c.84207_84209delinsAGTCATCT (TTN)	ENSP00000343764.6:p.Met28069IlefsTer18
ENST00000359218.9:c.65091_65093delinsAGTCATCT (TTN)	ENSP00000352154.5:p.Met21697IlefsTer18
ENST00000460472.6:c.64716_64718delinsAGTCATCT (TTN)	ENSP00000434586.1:p.Met21572IlefsTer18
ENST00000589042.5:c.91911_91913delinsAGTCATCT (TTN) MANE Select	ENSP00000467141.1:p.Met30637IlefsTer18
ENST00000591111.5:c.86988_86990delinsAGTCATCT (TTN)	ENSP00000465570.1:p.Met28996IlefsTer18
ENST00000615779.4:c.86988_86990delinsAGTCATCT (TTN)	ENSP00000483597.1:p.Met28996IlefsTer18
NM_001256850.1:c.86988_86990delinsAGTCATCT (TTN)	NP_001243779.1:p.Met28996IlefsTer18
NM_001267550.2:c.91911_91913delinsAGTCATCT (TTN) MANE Select	NP_001254479.2:p.Met30637IlefsTer18
NM_003319.4:c.64716_64718delinsAGTCATCT (TTN)	NP_003310.4:p.Met21572IlefsTer18
NM_133378.4:c.84207_84209delinsAGTCATCT (TTN)	NP_596869.4:p.Met28069IlefsTer18
NM_133432.3:c.65091_65093delinsAGTCATCT (TTN)	NP_597676.3:p.Met21697IlefsTer18
NM_133437.4:c.65292_65294delinsAGTCATCT (TTN)	NP_597681.4:p.Met21764IlefsTer18
NR_038271.1:n.447-21491_447-21489delinsAGATGACT (TTN-AS1)
NR_038272.1:n.2043+7448_2043+7450delinsAGATGACT (TTN-AS1)
XM_011511729.1:c.91008_91010delinsAGTCATCT (TTN)	XP_011510031.1:p.Met30336IlefsTer18
XM_011511730.1:c.64902_64904delinsAGTCATCT (TTN)	XP_011510032.1:p.Met21634IlefsTer18
XM_011511731.1:c.64761_64763delinsAGTCATCT (TTN)	XP_011510033.1:p.Met21587IlefsTer18
XM_017004819.1:c.90804_90806delinsAGTCATCT (TTN)	XP_016860308.1:p.Met30268IlefsTer18
XM_017004820.1:c.86202_86204delinsAGTCATCT (TTN)	XP_016860309.1:p.Met28734IlefsTer18
XM_017004821.1:c.86199_86201delinsAGTCATCT (TTN)	XP_016860310.1:p.Met28733IlefsTer18
XM_017004822.1:c.83241_83243delinsAGTCATCT (TTN)	XP_016860311.1:p.Met27747IlefsTer18
XM_017004823.1:c.64857_64859delinsAGTCATCT (TTN)	XP_016860312.1:p.Met21619IlefsTer18
XM_024453094.1:c.86352_86354delinsAGTCATCT (TTN)	XP_024308862.1:p.Met28784IlefsTer18
XM_024453095.1:c.86349_86351delinsAGTCATCT (TTN)	XP_024308863.1:p.Met28783IlefsTer18
XM_024453096.1:c.85782_85784delinsAGTCATCT (TTN)	XP_024308864.1:p.Met28594IlefsTer18
XM_024453097.1:c.83124_83126delinsAGTCATCT (TTN)	XP_024308865.1:p.Met27708IlefsTer18
XM_024453098.1:c.83043_83045delinsAGTCATCT (TTN)	XP_024308866.1:p.Met27681IlefsTer18
XM_024453099.1:c.64806_64808delinsAGTCATCT (TTN)	XP_024308867.1:p.Met21602IlefsTer18
XM_024453100.1:c.54660_54662delinsAGTCATCT (TTN)	XP_024308868.1:p.Met18220IlefsTer18