Canonical Allele Identifier: CA16617349

Linked Data

ClinVar Variation Id: 418530
ClinVar RCV Id: RCV000481134
dbSNP Id: rs1064793285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567385del , CM000664.2:g.178567385del GRCh38
NC_000002.11:g.179432112del , CM000664.1:g.179432112del GRCh37
NC_000002.10:g.179140358del NCBI36
NG_011618.3:g.268420del , LRG_391:g.268420del
NG_051363.1:g.49559del

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.52130del ENSP00000340554.6:p.Leu17377TyrfsTer4
ENST00000359218.10:n.51929del ENSP00000352154.5:p.Leu17310TyrfsTer4
ENST00000342175.10:c.52130del ENSP00000340554.6:p.Leu17377TyrfsTer4
ENST00000342992.10:c.71045del ENSP00000343764.6:p.Leu23682TyrfsTer4
ENST00000359218.9:c.51929del ENSP00000352154.5:p.Leu17310TyrfsTer4
ENST00000460472.6:c.51554del ENSP00000434586.1:p.Leu17185TyrfsTer4
ENST00000589042.5:c.78749del MANE Select ENSP00000467141.1:p.Leu26250TyrfsTer4
ENST00000591111.5:c.73826del ENSP00000465570.1:p.Leu24609TyrfsTer4
ENST00000615779.4:c.73826del ENSP00000483597.1:p.Leu24609TyrfsTer4
NM_001256850.1:c.73826del (TTN) NP_001243779.1:p.Leu24609TyrfsTer4
NM_001267550.2:c.78749del (TTN) MANE Select NP_001254479.2:p.Leu26250TyrfsTer4
NM_003319.4:c.51554del (TTN) NP_003310.4:p.Leu17185TyrfsTer4
NM_133378.4:c.71045del (TTN) NP_596869.4:p.Leu23682TyrfsTer4
NM_133432.3:c.51929del (TTN) NP_597676.3:p.Leu17310TyrfsTer4
NM_133437.4:c.52130del (TTN) NP_597681.4:p.Leu17377TyrfsTer4
NR_038271.1:n.447-3915del (TTN-AS1)
NR_038272.1:n.2044-15187del (TTN-AS1)
XM_011511729.1:c.77846del (TTN) XP_011510031.1:p.Leu25949TyrfsTer4
XM_011511730.1:c.51740del (TTN) XP_011510032.1:p.Leu17247TyrfsTer4
XM_011511731.1:c.51599del (TTN) XP_011510033.1:p.Leu17200TyrfsTer4
XM_017004819.1:c.77642del (TTN) XP_016860308.1:p.Leu25881TyrfsTer4
XM_017004820.1:c.73040del (TTN) XP_016860309.1:p.Leu24347TyrfsTer4
XM_017004821.1:c.73037del (TTN) XP_016860310.1:p.Leu24346TyrfsTer4
XM_017004822.1:c.70079del (TTN) XP_016860311.1:p.Leu23360TyrfsTer4
XM_017004823.1:c.51695del (TTN) XP_016860312.1:p.Leu17232TyrfsTer4
XM_024453094.1:c.73190del (TTN) XP_024308862.1:p.Leu24397TyrfsTer4
XM_024453095.1:c.73187del (TTN) XP_024308863.1:p.Leu24396TyrfsTer4
XM_024453096.1:c.72620del (TTN) XP_024308864.1:p.Leu24207TyrfsTer4
XM_024453097.1:c.69962del (TTN) XP_024308865.1:p.Leu23321TyrfsTer4
XM_024453098.1:c.69881del (TTN) XP_024308866.1:p.Leu23294TyrfsTer4
XM_024453099.1:c.51644del (TTN) XP_024308867.1:p.Leu17215TyrfsTer4
XM_024453100.1:c.41498del (TTN) XP_024308868.1:p.Leu13833TyrfsTer4