Canonical Allele Identifier: CA16610426

Linked Data

ClinVar Variation Id: 404715
dbSNP Id: rs1060500420

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590458del , CM000664.2:g.178590458del GRCh38
NC_000002.11:g.179455185del , CM000664.1:g.179455185del GRCh37
NC_000002.10:g.179163431del NCBI36
NG_011618.3:g.245347del , LRG_391:g.245347del
NG_051363.1:g.72632del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53565del (TTN) ENSP00000343764.6:p.Asp17856MetfsTer14
ENST00000342175.11:c.34650del (TTN) ENSP00000340554.6:p.Asp11551MetfsTer14
ENST00000359218.10:c.34449del (TTN) ENSP00000352154.5:p.Asp11484MetfsTer14
ENST00000342175.10:c.34650del (TTN) ENSP00000340554.6:p.Asp11551MetfsTer14
ENST00000342992.10:c.53565del (TTN) ENSP00000343764.6:p.Asp17856MetfsTer14
ENST00000359218.9:c.34449del (TTN) ENSP00000352154.5:p.Asp11484MetfsTer14
ENST00000460472.6:c.34074del (TTN) ENSP00000434586.1:p.Asp11359MetfsTer14
ENST00000589042.5:c.61269del (TTN) MANE Select ENSP00000467141.1:p.Asp20424MetfsTer14
ENST00000591111.5:c.56346del (TTN) ENSP00000465570.1:p.Asp18783MetfsTer14
ENST00000615779.4:c.56346del (TTN) ENSP00000483597.1:p.Asp18783MetfsTer14
NM_001256850.1:c.56346del (TTN) NP_001243779.1:p.Asp18783MetfsTer14
NM_001267550.2:c.61269del (TTN) MANE Select NP_001254479.2:p.Asp20424MetfsTer14
NM_003319.4:c.34074del (TTN) NP_003310.4:p.Asp11359MetfsTer14
NM_133378.4:c.53565del (TTN) NP_596869.4:p.Asp17856MetfsTer14
NM_133432.3:c.34449del (TTN) NP_597676.3:p.Asp11484MetfsTer14
NM_133437.4:c.34650del (TTN) NP_597681.4:p.Asp11551MetfsTer14
NR_038271.1:n.597-7138del (TTN-AS1)
NR_038272.1:n.3189-681del (TTN-AS1)
XM_011511729.1:c.60366del (TTN) XP_011510031.1:p.Asp20123MetfsTer14
XM_011511730.1:c.34260del (TTN) XP_011510032.1:p.Asp11421MetfsTer14
XM_011511731.1:c.34119del (TTN) XP_011510033.1:p.Asp11374MetfsTer14
XM_017004819.1:c.60162del (TTN) XP_016860308.1:p.Asp20055MetfsTer14
XM_017004820.1:c.55560del (TTN) XP_016860309.1:p.Asp18521MetfsTer14
XM_017004821.1:c.55557del (TTN) XP_016860310.1:p.Asp18520MetfsTer14
XM_017004822.1:c.52599del (TTN) XP_016860311.1:p.Asp17534MetfsTer14
XM_017004823.1:c.34215del (TTN) XP_016860312.1:p.Asp11406MetfsTer14
XM_024453094.1:c.55710del (TTN) XP_024308862.1:p.Asp18571MetfsTer14
XM_024453095.1:c.55707del (TTN) XP_024308863.1:p.Asp18570MetfsTer14
XM_024453096.1:c.55140del (TTN) XP_024308864.1:p.Asp18381MetfsTer14
XM_024453097.1:c.52482del (TTN) XP_024308865.1:p.Asp17495MetfsTer14
XM_024453098.1:c.52401del (TTN) XP_024308866.1:p.Asp17468MetfsTer14
XM_024453099.1:c.34164del (TTN) XP_024308867.1:p.Asp11389MetfsTer14
XM_024453100.1:c.24018del (TTN) XP_024308868.1:p.Asp8007MetfsTer14