Canonical Allele Identifier: CA16617348

Linked Data

ClinVar Variation Id: 423681
dbSNP Id: rs1064796574

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566854del , CM000664.2:g.178566854del GRCh38
NC_000002.11:g.179431581del , CM000664.1:g.179431581del GRCh37
NC_000002.10:g.179139827del NCBI36
NG_011618.3:g.268949del , LRG_391:g.268949del
NG_051363.1:g.49028del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71574del (TTN) ENSP00000343764.6:p.Asp23859ThrfsTer8
ENST00000342175.11:c.52659del (TTN) ENSP00000340554.6:p.Asp17554ThrfsTer8
ENST00000359218.10:c.52458del (TTN) ENSP00000352154.5:p.Asp17487ThrfsTer8
ENST00000342175.10:c.52659del (TTN) ENSP00000340554.6:p.Asp17554ThrfsTer8
ENST00000342992.10:c.71574del (TTN) ENSP00000343764.6:p.Asp23859ThrfsTer8
ENST00000359218.9:c.52458del (TTN) ENSP00000352154.5:p.Asp17487ThrfsTer8
ENST00000460472.6:c.52083del (TTN) ENSP00000434586.1:p.Asp17362ThrfsTer8
ENST00000589042.5:c.79278del (TTN) MANE Select ENSP00000467141.1:p.Asp26427ThrfsTer8
ENST00000591111.5:c.74355del (TTN) ENSP00000465570.1:p.Asp24786ThrfsTer8
ENST00000615779.4:c.74355del (TTN) ENSP00000483597.1:p.Asp24786ThrfsTer8
NM_001256850.1:c.74355del (TTN) NP_001243779.1:p.Asp24786ThrfsTer8
NM_001267550.2:c.79278del (TTN) MANE Select NP_001254479.2:p.Asp26427ThrfsTer8
NM_003319.4:c.52083del (TTN) NP_003310.4:p.Asp17362ThrfsTer8
NM_133378.4:c.71574del (TTN) NP_596869.4:p.Asp23859ThrfsTer8
NM_133432.3:c.52458del (TTN) NP_597676.3:p.Asp17487ThrfsTer8
NM_133437.4:c.52659del (TTN) NP_597681.4:p.Asp17554ThrfsTer8
NR_038271.1:n.447-4446del (TTN-AS1)
NR_038272.1:n.2044-15718del (TTN-AS1)
XM_011511729.1:c.78375del (TTN) XP_011510031.1:p.Asp26126ThrfsTer8
XM_011511730.1:c.52269del (TTN) XP_011510032.1:p.Asp17424ThrfsTer8
XM_011511731.1:c.52128del (TTN) XP_011510033.1:p.Asp17377ThrfsTer8
XM_017004819.1:c.78171del (TTN) XP_016860308.1:p.Asp26058ThrfsTer8
XM_017004820.1:c.73569del (TTN) XP_016860309.1:p.Asp24524ThrfsTer8
XM_017004821.1:c.73566del (TTN) XP_016860310.1:p.Asp24523ThrfsTer8
XM_017004822.1:c.70608del (TTN) XP_016860311.1:p.Asp23537ThrfsTer8
XM_017004823.1:c.52224del (TTN) XP_016860312.1:p.Asp17409ThrfsTer8
XM_024453094.1:c.73719del (TTN) XP_024308862.1:p.Asp24574ThrfsTer8
XM_024453095.1:c.73716del (TTN) XP_024308863.1:p.Asp24573ThrfsTer8
XM_024453096.1:c.73149del (TTN) XP_024308864.1:p.Asp24384ThrfsTer8
XM_024453097.1:c.70491del (TTN) XP_024308865.1:p.Asp23498ThrfsTer8
XM_024453098.1:c.70410del (TTN) XP_024308866.1:p.Asp23471ThrfsTer8
XM_024453099.1:c.52173del (TTN) XP_024308867.1:p.Asp17392ThrfsTer8
XM_024453100.1:c.42027del (TTN) XP_024308868.1:p.Asp14010ThrfsTer8