Canonical Allele Identifier: CA16617358

Linked Data

ClinVar Variation Id: 423378
ClinVar RCV Id: RCV002525933
dbSNP Id: rs1064796389

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577341del , CM000664.2:g.178577341del GRCh38
NC_000002.11:g.179442068del , CM000664.1:g.179442068del GRCh37
NC_000002.10:g.179150314del NCBI36
NG_011618.3:g.258463del , LRG_391:g.258463del
NG_051363.1:g.59515del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.61291del (TTN) ENSP00000343764.6:p.Thr20431ProfsTer?
ENST00000342175.11:c.42376del (TTN) ENSP00000340554.6:p.Thr14126ProfsTer?
ENST00000359218.10:c.42175del (TTN) ENSP00000352154.5:p.Thr14059ProfsTer?
ENST00000342175.10:c.42376del (TTN) ENSP00000340554.6:p.Thr14126ProfsTer?
ENST00000342992.10:c.61291del (TTN) ENSP00000343764.6:p.Thr20431ProfsTer?
ENST00000359218.9:c.42175del (TTN) ENSP00000352154.5:p.Thr14059ProfsTer?
ENST00000460472.6:c.41800del (TTN) ENSP00000434586.1:p.Thr13934ProfsTer?
ENST00000589042.5:c.68995del (TTN) MANE Select ENSP00000467141.1:p.Thr22999ProfsTer?
ENST00000591111.5:c.64072del (TTN) ENSP00000465570.1:p.Thr21358ProfsTer?
ENST00000615779.4:c.64072del (TTN) ENSP00000483597.1:p.Thr21358ProfsTer?
NM_001256850.1:c.64072del (TTN) NP_001243779.1:p.Thr21358ProfsTer?
NM_001267550.2:c.68995del (TTN) MANE Select NP_001254479.2:p.Thr22999ProfsTer?
NM_003319.4:c.41800del (TTN) NP_003310.4:p.Thr13934ProfsTer?
NM_133378.4:c.61291del (TTN) NP_596869.4:p.Thr20431ProfsTer?
NM_133432.3:c.42175del (TTN) NP_597676.3:p.Thr14059ProfsTer?
NM_133437.4:c.42376del (TTN) NP_597681.4:p.Thr14126ProfsTer?
NR_038271.1:n.596+5892del (TTN-AS1)
NR_038272.1:n.2044-5231del (TTN-AS1)
XM_011511729.1:c.68092del (TTN) XP_011510031.1:p.Thr22698ProfsTer?
XM_011511730.1:c.41986del (TTN) XP_011510032.1:p.Thr13996ProfsTer?
XM_011511731.1:c.41845del (TTN) XP_011510033.1:p.Thr13949ProfsTer?
XM_017004819.1:c.67888del (TTN) XP_016860308.1:p.Thr22630ProfsTer?
XM_017004820.1:c.63286del (TTN) XP_016860309.1:p.Thr21096ProfsTer?
XM_017004821.1:c.63283del (TTN) XP_016860310.1:p.Thr21095ProfsTer?
XM_017004822.1:c.60325del (TTN) XP_016860311.1:p.Thr20109ProfsTer?
XM_017004823.1:c.41941del (TTN) XP_016860312.1:p.Thr13981ProfsTer?
XM_024453094.1:c.63436del (TTN) XP_024308862.1:p.Thr21146ProfsTer?
XM_024453095.1:c.63433del (TTN) XP_024308863.1:p.Thr21145ProfsTer?
XM_024453096.1:c.62866del (TTN) XP_024308864.1:p.Thr20956ProfsTer?
XM_024453097.1:c.60208del (TTN) XP_024308865.1:p.Thr20070ProfsTer?
XM_024453098.1:c.60127del (TTN) XP_024308866.1:p.Thr20043ProfsTer?
XM_024453099.1:c.41890del (TTN) XP_024308867.1:p.Thr13964ProfsTer?
XM_024453100.1:c.31744del (TTN) XP_024308868.1:p.Thr10582ProfsTer?