Canonical Allele Identifier: CA2840866406

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689093dup , CM000664.2:g.178689093dup	GRCh38
NC_000002.11:g.179553820dup , CM000664.1:g.179553820dup	GRCh37
NC_000002.10:g.179262065dup	NCBI36
NG_011618.3:g.146710dup , LRG_391:g.146710dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.28323dup	ENSP00000343764.6:p.Val9442SerfsTer7
ENST00000342175.11:c.13859-46776dup	ENSP00000340554.6:n.13859-46776dup
ENST00000359218.10:c.13658-46776dup	ENSP00000352154.5:n.13658-46776dup
ENST00000342175.10:c.13859-46776dup	ENSP00000340554.6:n.13859-46776dup
ENST00000342992.10:c.28323dup	ENSP00000343764.6:p.Val9442SerfsTer7
ENST00000359218.9:c.13658-46776dup	ENSP00000352154.5:n.13658-46776dup
ENST00000414766.5:c.1689dup	ENSP00000401501.1:p.Val564SerfsTer7
ENST00000460472.6:c.13283-46776dup	ENSP00000434586.1:n.13283-46776dup
ENST00000589042.5:c.32055dup MANE Select	ENSP00000467141.1:p.Val10686SerfsTer7
ENST00000591111.5:c.31104dup	ENSP00000465570.1:p.Val10369SerfsTer7
ENST00000615779.4:c.31104dup	ENSP00000483597.1:p.Val10369SerfsTer7
NM_001256850.1:c.31104dup	NP_001243779.1:p.Val10369SerfsTer7
NM_001267550.2:c.32055dup MANE Select	NP_001254479.2:p.Val10686SerfsTer7
NM_003319.4:c.13283-46776dup	NP_003310.4:n.13283-46776dup
NM_133378.4:c.28323dup	NP_596869.4:p.Val9442SerfsTer7
NM_133432.3:c.13658-46776dup	NP_597676.3:n.13658-46776dup
NM_133437.4:c.13859-46776dup	NP_597681.4:n.13859-46776dup
XM_011511729.1:c.31152dup	XP_011510031.1:p.Val10385SerfsTer7
XM_011511730.1:c.13469-46776dup	XP_011510032.1:n.13469-46776dup
XM_011511731.1:c.13328-46776dup	XP_011510033.1:n.13328-46776dup
XM_017004819.1:c.31107dup	XP_016860308.1:p.Val10370SerfsTer7
XM_017004820.1:c.28326dup	XP_016860309.1:p.Val9443SerfsTer7
XM_017004821.1:c.28323dup	XP_016860310.1:p.Val9442SerfsTer7
XM_017004822.1:c.31107dup	XP_016860311.1:p.Val10370SerfsTer7
XM_017004823.1:c.13424-46776dup	XP_016860312.1:n.13424-46776dup
XM_024453094.1:c.31107dup	XP_024308862.1:p.Val10370SerfsTer7
XM_024453095.1:c.31107dup	XP_024308863.1:p.Val10370SerfsTer7
XM_024453096.1:c.31107dup	XP_024308864.1:p.Val10370SerfsTer7
XM_024453097.1:c.30898+720dup	XP_024308865.1:n.30898+720dup
XM_024453098.1:c.30898+720dup	XP_024308866.1:n.30898+720dup
XM_024453099.1:c.13424-46776dup	XP_024308867.1:n.13424-46776dup