Canonical Allele Identifier: CA16617333

Linked Data

ClinVar Variation Id: 421846
ClinVar RCV Id: RCV000484086
dbSNP Id: rs1064795399

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545562del , CM000664.2:g.178545562del GRCh38
NC_000002.11:g.179410289del , CM000664.1:g.179410289del GRCh37
NC_000002.10:g.179118535del NCBI36
NG_011618.3:g.290242del , LRG_391:g.290242del
NG_051363.1:g.27736del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87845del (TTN) ENSP00000343764.6:p.Lys29282ArgfsTer19
ENST00000342175.11:c.68930del (TTN) ENSP00000340554.6:p.Lys22977ArgfsTer19
ENST00000359218.10:c.68729del (TTN) ENSP00000352154.5:p.Lys22910ArgfsTer19
ENST00000342175.10:c.68930del (TTN) ENSP00000340554.6:p.Lys22977ArgfsTer19
ENST00000342992.10:c.87845del (TTN) ENSP00000343764.6:p.Lys29282ArgfsTer19
ENST00000359218.9:c.68729del (TTN) ENSP00000352154.5:p.Lys22910ArgfsTer19
ENST00000460472.6:c.68354del (TTN) ENSP00000434586.1:p.Lys22785ArgfsTer19
ENST00000589042.5:c.95549del (TTN) MANE Select ENSP00000467141.1:p.Lys31850ArgfsTer19
ENST00000591111.5:c.90626del (TTN) ENSP00000465570.1:p.Lys30209ArgfsTer19
ENST00000615779.4:c.90626del (TTN) ENSP00000483597.1:p.Lys30209ArgfsTer19
NM_001256850.1:c.90626del (TTN) NP_001243779.1:p.Lys30209ArgfsTer19
NM_001267550.2:c.95549del (TTN) MANE Select NP_001254479.2:p.Lys31850ArgfsTer19
NM_003319.4:c.68354del (TTN) NP_003310.4:p.Lys22785ArgfsTer19
NM_133378.4:c.87845del (TTN) NP_596869.4:p.Lys29282ArgfsTer19
NM_133432.3:c.68729del (TTN) NP_597676.3:p.Lys22910ArgfsTer19
NM_133437.4:c.68930del (TTN) NP_597681.4:p.Lys22977ArgfsTer19
NR_038271.1:n.446+21926del (TTN-AS1)
NR_038272.1:n.2043+3201del (TTN-AS1)
XM_011511729.1:c.94646del (TTN) XP_011510031.1:p.Lys31549ArgfsTer19
XM_011511730.1:c.68540del (TTN) XP_011510032.1:p.Lys22847ArgfsTer19
XM_011511731.1:c.68399del (TTN) XP_011510033.1:p.Lys22800ArgfsTer19
XM_017004819.1:c.94442del (TTN) XP_016860308.1:p.Lys31481ArgfsTer19
XM_017004820.1:c.89840del (TTN) XP_016860309.1:p.Lys29947ArgfsTer19
XM_017004821.1:c.89837del (TTN) XP_016860310.1:p.Lys29946ArgfsTer19
XM_017004822.1:c.86879del (TTN) XP_016860311.1:p.Lys28960ArgfsTer19
XM_017004823.1:c.68495del (TTN) XP_016860312.1:p.Lys22832ArgfsTer19
XM_024453094.1:c.89990del (TTN) XP_024308862.1:p.Lys29997ArgfsTer19
XM_024453095.1:c.89987del (TTN) XP_024308863.1:p.Lys29996ArgfsTer19
XM_024453096.1:c.89420del (TTN) XP_024308864.1:p.Lys29807ArgfsTer19
XM_024453097.1:c.86762del (TTN) XP_024308865.1:p.Lys28921ArgfsTer19
XM_024453098.1:c.86681del (TTN) XP_024308866.1:p.Lys28894ArgfsTer19
XM_024453099.1:c.68444del (TTN) XP_024308867.1:p.Lys22815ArgfsTer19
XM_024453100.1:c.58298del (TTN) XP_024308868.1:p.Lys19433ArgfsTer19