Canonical Allele Identifier: CA2573051806

Gene: TTN

Linked Data

• ClinVar Variation Id: 1329109
• ClinVar RCV Id: RCV001799152 ; RCV002541318
• dbSNP Id: rs2154318180

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740489_178740490del , CM000664.2:g.178740489_178740490del	GRCh38
NC_000002.11:g.179605216_179605217del , CM000664.1:g.179605216_179605217del	GRCh37
NC_000002.10:g.179313461_179313462del	NCBI36
NG_011618.3:g.95314_95315del , LRG_391:g.95314_95315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2129_10361-2128del	ENSP00000343764.6:n.10361-2129_10361-2128...
ENST00000342175.11:c.12231_12232del	ENSP00000340554.6:p.Arg4078SerfsTer20
ENST00000359218.10:c.12030_12031del	ENSP00000352154.5:p.Arg4011SerfsTer20
ENST00000342175.10:c.12231_12232del	ENSP00000340554.6:p.Arg4078SerfsTer20
ENST00000342992.10:c.10361-2129_10361-2128del	ENSP00000343764.6:n.10361-2129_10361-2128...
ENST00000359218.9:c.12030_12031del	ENSP00000352154.5:p.Arg4011SerfsTer20
ENST00000460472.6:c.11655_11656del	ENSP00000434586.1:p.Arg3886SerfsTer20
ENST00000589042.5:c.12744_12745del MANE Select	ENSP00000467141.1:p.Arg4249SerfsTer20
ENST00000591111.5:c.11793_11794del	ENSP00000465570.1:p.Arg3932SerfsTer20
ENST00000615779.4:c.11793_11794del	ENSP00000483597.1:p.Arg3932SerfsTer20
NM_001256850.1:c.11793_11794del	NP_001243779.1:p.Arg3932SerfsTer20
NM_001267550.2:c.12744_12745del MANE Select	NP_001254479.2:p.Arg4249SerfsTer20
NM_003319.4:c.11655_11656del	NP_003310.4:p.Arg3886SerfsTer20
NM_133378.4:c.10361-2129_10361-2128del	NP_596869.4:n.10361-2129_10361-2128del
NM_133432.3:c.12030_12031del	NP_597676.3:p.Arg4011SerfsTer20
NM_133437.4:c.12231_12232del	NP_597681.4:p.Arg4078SerfsTer20
XM_011511729.1:c.11841_11842del	XP_011510031.1:p.Arg3948SerfsTer20
XM_011511730.1:c.11841_11842del	XP_011510032.1:p.Arg3948SerfsTer20
XM_011511731.1:c.11700_11701del	XP_011510033.1:p.Arg3901SerfsTer20
XM_017004819.1:c.11796_11797del	XP_016860308.1:p.Arg3933SerfsTer20
XM_017004820.1:c.10364-2129_10364-2128del	XP_016860309.1:n.10364-2129_10364-2128del...
XM_017004821.1:c.10361-2129_10361-2128del	XP_016860310.1:n.10361-2129_10361-2128del...
XM_017004822.1:c.11796_11797del	XP_016860311.1:p.Arg3933SerfsTer20
XM_017004823.1:c.11796_11797del	XP_016860312.1:p.Arg3933SerfsTer20
XM_024453094.1:c.11796_11797del	XP_024308862.1:p.Arg3933SerfsTer20
XM_024453095.1:c.11796_11797del	XP_024308863.1:p.Arg3933SerfsTer20
XM_024453096.1:c.11796_11797del	XP_024308864.1:p.Arg3933SerfsTer20
XM_024453097.1:c.11796_11797del	XP_024308865.1:p.Arg3933SerfsTer20
XM_024453098.1:c.11796_11797del	XP_024308866.1:p.Arg3933SerfsTer20
XM_024453099.1:c.11796_11797del	XP_024308867.1:p.Arg3933SerfsTer20