Canonical Allele Identifier: CA16610252

Linked Data

ClinVar Variation Id: 405094
ClinVar RCV Id: RCV001008922
dbSNP Id: rs1060500556

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561651del , CM000664.2:g.178561651del GRCh38
NC_000002.11:g.179426378del , CM000664.1:g.179426378del GRCh37
NC_000002.10:g.179134624del NCBI36
NG_011618.3:g.274153del , LRG_391:g.274153del
NG_051363.1:g.43825del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76778del (TTN) ENSP00000343764.6:p.Pro25593LeufsTer13
ENST00000342175.11:c.57863del (TTN) ENSP00000340554.6:p.Pro19288LeufsTer13
ENST00000359218.10:c.57662del (TTN) ENSP00000352154.5:p.Pro19221LeufsTer13
ENST00000342175.10:c.57863del (TTN) ENSP00000340554.6:p.Pro19288LeufsTer13
ENST00000342992.10:c.76778del (TTN) ENSP00000343764.6:p.Pro25593LeufsTer13
ENST00000359218.9:c.57662del (TTN) ENSP00000352154.5:p.Pro19221LeufsTer13
ENST00000460472.6:c.57287del (TTN) ENSP00000434586.1:p.Pro19096LeufsTer13
ENST00000589042.5:c.84482del (TTN) MANE Select ENSP00000467141.1:p.Pro28161LeufsTer13
ENST00000591111.5:c.79559del (TTN) ENSP00000465570.1:p.Pro26520LeufsTer13
ENST00000615779.4:c.79559del (TTN) ENSP00000483597.1:p.Pro26520LeufsTer13
NM_001256850.1:c.79559del (TTN) NP_001243779.1:p.Pro26520LeufsTer13
NM_001267550.2:c.84482del (TTN) MANE Select NP_001254479.2:p.Pro28161LeufsTer13
NM_003319.4:c.57287del (TTN) NP_003310.4:p.Pro19096LeufsTer13
NM_133378.4:c.76778del (TTN) NP_596869.4:p.Pro25593LeufsTer13
NM_133432.3:c.57662del (TTN) NP_597676.3:p.Pro19221LeufsTer13
NM_133437.4:c.57863del (TTN) NP_597681.4:p.Pro19288LeufsTer13
NR_038271.1:n.447-9649del (TTN-AS1)
NR_038272.1:n.2043+19290del (TTN-AS1)
XM_011511729.1:c.83579del (TTN) XP_011510031.1:p.Pro27860LeufsTer13
XM_011511730.1:c.57473del (TTN) XP_011510032.1:p.Pro19158LeufsTer13
XM_011511731.1:c.57332del (TTN) XP_011510033.1:p.Pro19111LeufsTer13
XM_017004819.1:c.83375del (TTN) XP_016860308.1:p.Pro27792LeufsTer13
XM_017004820.1:c.78773del (TTN) XP_016860309.1:p.Pro26258LeufsTer13
XM_017004821.1:c.78770del (TTN) XP_016860310.1:p.Pro26257LeufsTer13
XM_017004822.1:c.75812del (TTN) XP_016860311.1:p.Pro25271LeufsTer13
XM_017004823.1:c.57428del (TTN) XP_016860312.1:p.Pro19143LeufsTer13
XM_024453094.1:c.78923del (TTN) XP_024308862.1:p.Pro26308LeufsTer13
XM_024453095.1:c.78920del (TTN) XP_024308863.1:p.Pro26307LeufsTer13
XM_024453096.1:c.78353del (TTN) XP_024308864.1:p.Pro26118LeufsTer13
XM_024453097.1:c.75695del (TTN) XP_024308865.1:p.Pro25232LeufsTer13
XM_024453098.1:c.75614del (TTN) XP_024308866.1:p.Pro25205LeufsTer13
XM_024453099.1:c.57377del (TTN) XP_024308867.1:p.Pro19126LeufsTer13
XM_024453100.1:c.47231del (TTN) XP_024308868.1:p.Pro15744LeufsTer13