Canonical Allele Identifier: CA16042365

Identifiers and link-outs to other resources

ClinVar Variation Id: 372706
ClinVar RCV Id: RCV000413964
dbSNP Id: rs1057517937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570640del , CM000664.2:g.178570640del GRCh38
NC_000002.11:g.179435367del , CM000664.1:g.179435367del GRCh37
NC_000002.10:g.179143613del NCBI36
NG_011618.3:g.265163del , LRG_391:g.265163del
NG_051363.1:g.52814del

Transcript Alleles

HGVS Amino-acid change
NM_001256850.1:c.70569del (TTN) VV NP_001243779.1:p.Phe23524LeufsTer7
NM_001267550.2:c.75492del (TTN) VV NP_001254479.2:p.Phe25165LeufsTer7
NM_003319.4:c.48297del (TTN) VV NP_003310.4:p.Phe16100LeufsTer7
NM_133378.4:c.67788del (TTN) VV NP_596869.4:p.Phe22597LeufsTer7
NM_133432.3:c.48672del (TTN) VV NP_597676.3:p.Phe16225LeufsTer7
NM_133437.4:c.48873del (TTN) VV NP_597681.4:p.Phe16292LeufsTer7
NR_038271.1:n.447-660del (TTN-AS1)
NR_038272.1:n.2044-11932del (TTN-AS1)
XM_011511729.1:c.74589del (TTN) XP_011510031.1:p.Phe24864LeufsTer7
XM_011511730.1:c.48483del (TTN) XP_011510032.1:p.Phe16162LeufsTer7
XM_011511731.1:c.48342del (TTN) XP_011510033.1:p.Phe16115LeufsTer7
XM_017004819.1:c.74385del (TTN) XP_016860308.1:p.Phe24796LeufsTer7
XM_017004820.1:c.69783del (TTN) XP_016860309.1:p.Phe23262LeufsTer7
XM_017004821.1:c.69780del (TTN) XP_016860310.1:p.Phe23261LeufsTer7
XM_017004822.1:c.66822del (TTN) XP_016860311.1:p.Phe22275LeufsTer7
XM_017004823.1:c.48438del (TTN) XP_016860312.1:p.Phe16147LeufsTer7
XM_024453094.1:c.69933del (TTN) XP_024308862.1:p.Phe23312LeufsTer7
XM_024453095.1:c.69930del (TTN) XP_024308863.1:p.Phe23311LeufsTer7
XM_024453096.1:c.69363del (TTN) XP_024308864.1:p.Phe23122LeufsTer7
XM_024453097.1:c.66705del (TTN) XP_024308865.1:p.Phe22236LeufsTer7
XM_024453098.1:c.66624del (TTN) XP_024308866.1:p.Phe22209LeufsTer7
XM_024453099.1:c.48387del (TTN) XP_024308867.1:p.Phe16130LeufsTer7
XM_024453100.1:c.38241del (TTN) XP_024308868.1:p.Phe12748LeufsTer7
ENST00000342175.10:c.48873del ENSP00000340554.6:p.Phe16292LeufsTer7
ENST00000342992.10:c.67788del ENSP00000343764.6:p.Phe22597LeufsTer7
ENST00000359218.9:c.48672del ENSP00000352154.5:p.Phe16225LeufsTer7
ENST00000460472.6:c.48297del ENSP00000434586.1:p.Phe16100LeufsTer7
ENST00000589042.5:c.75492del ENSP00000467141.1:p.Phe25165LeufsTer7
ENST00000591111.5:c.70569del ENSP00000465570.1:p.Phe23524LeufsTer7
ENST00000615779.4:c.70569del ENSP00000483597.1:p.Phe23524LeufsTer7