Canonical Allele Identifier: CA309453

Linked Data

ClinVar Variation Id: 202490
ClinVar RCV Id: RCV000184355
dbSNP Id: rs794729362

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553736del , CM000664.2:g.178553736del GRCh38
NC_000002.11:g.179418463del , CM000664.1:g.179418463del GRCh37
NC_000002.10:g.179126709del NCBI36
NG_011618.3:g.282068del , LRG_391:g.282068del
NG_051363.1:g.35910del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.81566del (TTN) ENSP00000343764.6:p.Lys27189SerfsTer17
ENST00000342175.11:c.62651del (TTN) ENSP00000340554.6:p.Lys20884SerfsTer17
ENST00000359218.10:c.62450del (TTN) ENSP00000352154.5:p.Lys20817SerfsTer17
ENST00000342175.10:c.62651del (TTN) ENSP00000340554.6:p.Lys20884SerfsTer17
ENST00000342992.10:c.81566del (TTN) ENSP00000343764.6:p.Lys27189SerfsTer17
ENST00000359218.9:c.62450del (TTN) ENSP00000352154.5:p.Lys20817SerfsTer17
ENST00000460472.6:c.62075del (TTN) ENSP00000434586.1:p.Lys20692SerfsTer17
ENST00000589042.5:c.89270del (TTN) MANE Select ENSP00000467141.1:p.Lys29757SerfsTer17
ENST00000591111.5:c.84347del (TTN) ENSP00000465570.1:p.Lys28116SerfsTer17
ENST00000615779.4:c.84347del (TTN) ENSP00000483597.1:p.Lys28116SerfsTer17
NM_001256850.1:c.84347del (TTN) NP_001243779.1:p.Lys28116SerfsTer17
NM_001267550.2:c.89270del (TTN) MANE Select NP_001254479.2:p.Lys29757SerfsTer17
NM_003319.4:c.62075del (TTN) NP_003310.4:p.Lys20692SerfsTer17
NM_133378.4:c.81566del (TTN) NP_596869.4:p.Lys27189SerfsTer17
NM_133432.3:c.62450del (TTN) NP_597676.3:p.Lys20817SerfsTer17
NM_133437.4:c.62651del (TTN) NP_597681.4:p.Lys20884SerfsTer17
NR_038271.1:n.447-17564del (TTN-AS1)
NR_038272.1:n.2043+11375del (TTN-AS1)
XM_011511729.1:c.88367del (TTN) XP_011510031.1:p.Lys29456SerfsTer17
XM_011511730.1:c.62261del (TTN) XP_011510032.1:p.Lys20754SerfsTer17
XM_011511731.1:c.62120del (TTN) XP_011510033.1:p.Lys20707SerfsTer17
XM_017004819.1:c.88163del (TTN) XP_016860308.1:p.Lys29388SerfsTer17
XM_017004820.1:c.83561del (TTN) XP_016860309.1:p.Lys27854SerfsTer17
XM_017004821.1:c.83558del (TTN) XP_016860310.1:p.Lys27853SerfsTer17
XM_017004822.1:c.80600del (TTN) XP_016860311.1:p.Lys26867SerfsTer17
XM_017004823.1:c.62216del (TTN) XP_016860312.1:p.Lys20739SerfsTer17
XM_024453094.1:c.83711del (TTN) XP_024308862.1:p.Lys27904SerfsTer17
XM_024453095.1:c.83708del (TTN) XP_024308863.1:p.Lys27903SerfsTer17
XM_024453096.1:c.83141del (TTN) XP_024308864.1:p.Lys27714SerfsTer17
XM_024453097.1:c.80483del (TTN) XP_024308865.1:p.Lys26828SerfsTer17
XM_024453098.1:c.80402del (TTN) XP_024308866.1:p.Lys26801SerfsTer17
XM_024453099.1:c.62165del (TTN) XP_024308867.1:p.Lys20722SerfsTer17
XM_024453100.1:c.52019del (TTN) XP_024308868.1:p.Lys17340SerfsTer17