Canonical Allele Identifier: CA2580616631

Gene: TTN

Linked Data

• ClinVar Variation Id: 2122429
• ClinVar RCV Id: RCV003046866

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740480_178740481del , CM000664.2:g.178740480_178740481del	GRCh38
NC_000002.11:g.179605207_179605208del , CM000664.1:g.179605207_179605208del	GRCh37
NC_000002.10:g.179313452_179313453del	NCBI36
NG_011618.3:g.95324_95325del , LRG_391:g.95324_95325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2119_10361-2118del	ENSP00000343764.6:n.10361-2119_10361-2118...
ENST00000342175.11:c.12241_12242del	ENSP00000340554.6:p.Leu4081SerfsTer17
ENST00000359218.10:c.12040_12041del	ENSP00000352154.5:p.Leu4014SerfsTer17
ENST00000342175.10:c.12241_12242del	ENSP00000340554.6:p.Leu4081SerfsTer17
ENST00000342992.10:c.10361-2119_10361-2118del	ENSP00000343764.6:n.10361-2119_10361-2118...
ENST00000359218.9:c.12040_12041del	ENSP00000352154.5:p.Leu4014SerfsTer17
ENST00000460472.6:c.11665_11666del	ENSP00000434586.1:p.Leu3889SerfsTer17
ENST00000589042.5:c.12754_12755del MANE Select	ENSP00000467141.1:p.Leu4252SerfsTer17
ENST00000591111.5:c.11803_11804del	ENSP00000465570.1:p.Leu3935SerfsTer17
ENST00000615779.4:c.11803_11804del	ENSP00000483597.1:p.Leu3935SerfsTer17
NM_001256850.1:c.11803_11804del	NP_001243779.1:p.Leu3935SerfsTer17
NM_001267550.2:c.12754_12755del MANE Select	NP_001254479.2:p.Leu4252SerfsTer17
NM_003319.4:c.11665_11666del	NP_003310.4:p.Leu3889SerfsTer17
NM_133378.4:c.10361-2119_10361-2118del	NP_596869.4:n.10361-2119_10361-2118del
NM_133432.3:c.12040_12041del	NP_597676.3:p.Leu4014SerfsTer17
NM_133437.4:c.12241_12242del	NP_597681.4:p.Leu4081SerfsTer17
XM_011511729.1:c.11851_11852del	XP_011510031.1:p.Leu3951SerfsTer17
XM_011511730.1:c.11851_11852del	XP_011510032.1:p.Leu3951SerfsTer17
XM_011511731.1:c.11710_11711del	XP_011510033.1:p.Leu3904SerfsTer17
XM_017004819.1:c.11806_11807del	XP_016860308.1:p.Leu3936SerfsTer17
XM_017004820.1:c.10364-2119_10364-2118del	XP_016860309.1:n.10364-2119_10364-2118del...
XM_017004821.1:c.10361-2119_10361-2118del	XP_016860310.1:n.10361-2119_10361-2118del...
XM_017004822.1:c.11806_11807del	XP_016860311.1:p.Leu3936SerfsTer17
XM_017004823.1:c.11806_11807del	XP_016860312.1:p.Leu3936SerfsTer17
XM_024453094.1:c.11806_11807del	XP_024308862.1:p.Leu3936SerfsTer17
XM_024453095.1:c.11806_11807del	XP_024308863.1:p.Leu3936SerfsTer17
XM_024453096.1:c.11806_11807del	XP_024308864.1:p.Leu3936SerfsTer17
XM_024453097.1:c.11806_11807del	XP_024308865.1:p.Leu3936SerfsTer17
XM_024453098.1:c.11806_11807del	XP_024308866.1:p.Leu3936SerfsTer17
XM_024453099.1:c.11806_11807del	XP_024308867.1:p.Leu3936SerfsTer17