Canonical Allele Identifier: CA16610390

Linked Data

ClinVar Variation Id: 404884
dbSNP Id: rs1060500479

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581559del , CM000664.2:g.178581559del GRCh38
NC_000002.11:g.179446286del , CM000664.1:g.179446286del GRCh37
NC_000002.10:g.179154532del NCBI36
NG_011618.3:g.254245del , LRG_391:g.254245del
NG_051363.1:g.63733del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59006del (TTN) ENSP00000343764.6:p.Lys19669ArgfsTer20
ENST00000342175.11:c.40091del (TTN) ENSP00000340554.6:p.Lys13364ArgfsTer20
ENST00000359218.10:c.39890del (TTN) ENSP00000352154.5:p.Lys13297ArgfsTer20
ENST00000342175.10:c.40091del (TTN) ENSP00000340554.6:p.Lys13364ArgfsTer20
ENST00000342992.10:c.59006del (TTN) ENSP00000343764.6:p.Lys19669ArgfsTer20
ENST00000359218.9:c.39890del (TTN) ENSP00000352154.5:p.Lys13297ArgfsTer20
ENST00000460472.6:c.39515del (TTN) ENSP00000434586.1:p.Lys13172ArgfsTer20
ENST00000589042.5:c.66710del (TTN) MANE Select ENSP00000467141.1:p.Lys22237ArgfsTer20
ENST00000591111.5:c.61787del (TTN) ENSP00000465570.1:p.Lys20596ArgfsTer20
ENST00000615779.4:c.61787del (TTN) ENSP00000483597.1:p.Lys20596ArgfsTer20
NM_001256850.1:c.61787del (TTN) NP_001243779.1:p.Lys20596ArgfsTer20
NM_001267550.2:c.66710del (TTN) MANE Select NP_001254479.2:p.Lys22237ArgfsTer20
NM_003319.4:c.39515del (TTN) NP_003310.4:p.Lys13172ArgfsTer20
NM_133378.4:c.59006del (TTN) NP_596869.4:p.Lys19669ArgfsTer20
NM_133432.3:c.39890del (TTN) NP_597676.3:p.Lys13297ArgfsTer20
NM_133437.4:c.40091del (TTN) NP_597681.4:p.Lys13364ArgfsTer20
NR_038271.1:n.596+10110del (TTN-AS1)
NR_038272.1:n.2044-1013del (TTN-AS1)
XM_011511729.1:c.65807del (TTN) XP_011510031.1:p.Lys21936ArgfsTer20
XM_011511730.1:c.39701del (TTN) XP_011510032.1:p.Lys13234ArgfsTer20
XM_011511731.1:c.39560del (TTN) XP_011510033.1:p.Lys13187ArgfsTer20
XM_017004819.1:c.65603del (TTN) XP_016860308.1:p.Lys21868ArgfsTer20
XM_017004820.1:c.61001del (TTN) XP_016860309.1:p.Lys20334ArgfsTer20
XM_017004821.1:c.60998del (TTN) XP_016860310.1:p.Lys20333ArgfsTer20
XM_017004822.1:c.58040del (TTN) XP_016860311.1:p.Lys19347ArgfsTer20
XM_017004823.1:c.39656del (TTN) XP_016860312.1:p.Lys13219ArgfsTer20
XM_024453094.1:c.61151del (TTN) XP_024308862.1:p.Lys20384ArgfsTer20
XM_024453095.1:c.61148del (TTN) XP_024308863.1:p.Lys20383ArgfsTer20
XM_024453096.1:c.60581del (TTN) XP_024308864.1:p.Lys20194ArgfsTer20
XM_024453097.1:c.57923del (TTN) XP_024308865.1:p.Lys19308ArgfsTer20
XM_024453098.1:c.57842del (TTN) XP_024308866.1:p.Lys19281ArgfsTer20
XM_024453099.1:c.39605del (TTN) XP_024308867.1:p.Lys13202ArgfsTer20
XM_024453100.1:c.29459del (TTN) XP_024308868.1:p.Lys9820ArgfsTer20