Canonical Allele Identifier: CA16617337

Linked Data

ClinVar Variation Id: 419067
ClinVar RCV Id: RCV000480850
dbSNP Id: rs1064793622

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547447_178547448delinsG , CM000664.2:g.178547447_178547448delinsG GRCh38
NC_000002.11:g.179412174_179412175delinsG , CM000664.1:g.179412174_179412175delinsG GRCh37
NC_000002.10:g.179120420_179120421delinsG NCBI36
NG_011618.3:g.288355_288356delinsC , LRG_391:g.288355_288356delinsC
NG_051363.1:g.29621_29622delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.86474_86475delinsC (TTN) ENSP00000343764.6:p.Lys28825ThrfsTer3
ENST00000342175.11:c.67559_67560delinsC (TTN) ENSP00000340554.6:p.Lys22520ThrfsTer3
ENST00000359218.10:c.67358_67359delinsC (TTN) ENSP00000352154.5:p.Lys22453ThrfsTer3
ENST00000342175.10:c.67559_67560delinsC (TTN) ENSP00000340554.6:p.Lys22520ThrfsTer3
ENST00000342992.10:c.86474_86475delinsC (TTN) ENSP00000343764.6:p.Lys28825ThrfsTer3
ENST00000359218.9:c.67358_67359delinsC (TTN) ENSP00000352154.5:p.Lys22453ThrfsTer3
ENST00000460472.6:c.66983_66984delinsC (TTN) ENSP00000434586.1:p.Lys22328ThrfsTer3
ENST00000589042.5:c.94178_94179delinsC (TTN) MANE Select ENSP00000467141.1:p.Lys31393ThrfsTer3
ENST00000591111.5:c.89255_89256delinsC (TTN) ENSP00000465570.1:p.Lys29752ThrfsTer3
ENST00000615779.4:c.89255_89256delinsC (TTN) ENSP00000483597.1:p.Lys29752ThrfsTer3
NM_001256850.1:c.89255_89256delinsC (TTN) NP_001243779.1:p.Lys29752ThrfsTer3
NM_001267550.2:c.94178_94179delinsC (TTN) MANE Select NP_001254479.2:p.Lys31393ThrfsTer3
NM_003319.4:c.66983_66984delinsC (TTN) NP_003310.4:p.Lys22328ThrfsTer3
NM_133378.4:c.86474_86475delinsC (TTN) NP_596869.4:p.Lys28825ThrfsTer3
NM_133432.3:c.67358_67359delinsC (TTN) NP_597676.3:p.Lys22453ThrfsTer3
NM_133437.4:c.67559_67560delinsC (TTN) NP_597681.4:p.Lys22520ThrfsTer3
NR_038271.1:n.446+23811_446+23812delinsG (TTN-AS1)
NR_038272.1:n.2043+5086_2043+5087delinsG (TTN-AS1)
XM_011511729.1:c.93275_93276delinsC (TTN) XP_011510031.1:p.Lys31092ThrfsTer3
XM_011511730.1:c.67169_67170delinsC (TTN) XP_011510032.1:p.Lys22390ThrfsTer3
XM_011511731.1:c.67028_67029delinsC (TTN) XP_011510033.1:p.Lys22343ThrfsTer3
XM_017004819.1:c.93071_93072delinsC (TTN) XP_016860308.1:p.Lys31024ThrfsTer3
XM_017004820.1:c.88469_88470delinsC (TTN) XP_016860309.1:p.Lys29490ThrfsTer3
XM_017004821.1:c.88466_88467delinsC (TTN) XP_016860310.1:p.Lys29489ThrfsTer3
XM_017004822.1:c.85508_85509delinsC (TTN) XP_016860311.1:p.Lys28503ThrfsTer3
XM_017004823.1:c.67124_67125delinsC (TTN) XP_016860312.1:p.Lys22375ThrfsTer3
XM_024453094.1:c.88619_88620delinsC (TTN) XP_024308862.1:p.Lys29540ThrfsTer3
XM_024453095.1:c.88616_88617delinsC (TTN) XP_024308863.1:p.Lys29539ThrfsTer3
XM_024453096.1:c.88049_88050delinsC (TTN) XP_024308864.1:p.Lys29350ThrfsTer3
XM_024453097.1:c.85391_85392delinsC (TTN) XP_024308865.1:p.Lys28464ThrfsTer3
XM_024453098.1:c.85310_85311delinsC (TTN) XP_024308866.1:p.Lys28437ThrfsTer3
XM_024453099.1:c.67073_67074delinsC (TTN) XP_024308867.1:p.Lys22358ThrfsTer3
XM_024453100.1:c.56927_56928delinsC (TTN) XP_024308868.1:p.Lys18976ThrfsTer3