Canonical Allele Identifier: CA2586970768

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584484del , CM000664.2:g.178584484del GRCh38
NC_000002.11:g.179449211del , CM000664.1:g.179449211del GRCh37
NC_000002.10:g.179157457del NCBI36
NG_011618.3:g.251322del , LRG_391:g.251322del
NG_051363.1:g.66658del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57366del (TTN) ENSP00000343764.6:p.Ile19123LeufsTer5
ENST00000342175.11:c.38451del (TTN) ENSP00000340554.6:p.Ile12818LeufsTer5
ENST00000359218.10:c.38250del (TTN) ENSP00000352154.5:p.Ile12751LeufsTer5
ENST00000342175.10:c.38451del (TTN) ENSP00000340554.6:p.Ile12818LeufsTer5
ENST00000342992.10:c.57366del (TTN) ENSP00000343764.6:p.Ile19123LeufsTer5
ENST00000359218.9:c.38250del (TTN) ENSP00000352154.5:p.Ile12751LeufsTer5
ENST00000460472.6:c.37875del (TTN) ENSP00000434586.1:p.Ile12626LeufsTer5
ENST00000589042.5:c.65070del (TTN) MANE Select ENSP00000467141.1:p.Ile21691LeufsTer5
ENST00000591111.5:c.60147del (TTN) ENSP00000465570.1:p.Ile20050LeufsTer5
ENST00000615779.4:c.60147del (TTN) ENSP00000483597.1:p.Ile20050LeufsTer5
NM_001256850.1:c.60147del (TTN) NP_001243779.1:p.Ile20050LeufsTer5
NM_001267550.2:c.65070del (TTN) MANE Select NP_001254479.2:p.Ile21691LeufsTer5
NM_003319.4:c.37875del (TTN) NP_003310.4:p.Ile12626LeufsTer5
NM_133378.4:c.57366del (TTN) NP_596869.4:p.Ile19123LeufsTer5
NM_133432.3:c.38250del (TTN) NP_597676.3:p.Ile12751LeufsTer5
NM_133437.4:c.38451del (TTN) NP_597681.4:p.Ile12818LeufsTer5
NR_038271.1:n.596+13035del (TTN-AS1)
NR_038272.1:n.2768-89del (TTN-AS1)
XM_011511729.1:c.64167del (TTN) XP_011510031.1:p.Ile21390LeufsTer5
XM_011511730.1:c.38061del (TTN) XP_011510032.1:p.Ile12688LeufsTer5
XM_011511731.1:c.37920del (TTN) XP_011510033.1:p.Ile12641LeufsTer5
XM_017004819.1:c.63963del (TTN) XP_016860308.1:p.Ile21322LeufsTer5
XM_017004820.1:c.59361del (TTN) XP_016860309.1:p.Ile19788LeufsTer5
XM_017004821.1:c.59358del (TTN) XP_016860310.1:p.Ile19787LeufsTer5
XM_017004822.1:c.56400del (TTN) XP_016860311.1:p.Ile18801LeufsTer5
XM_017004823.1:c.38016del (TTN) XP_016860312.1:p.Ile12673LeufsTer5
XM_024453094.1:c.59511del (TTN) XP_024308862.1:p.Ile19838LeufsTer5
XM_024453095.1:c.59508del (TTN) XP_024308863.1:p.Ile19837LeufsTer5
XM_024453096.1:c.58941del (TTN) XP_024308864.1:p.Ile19648LeufsTer5
XM_024453097.1:c.56283del (TTN) XP_024308865.1:p.Ile18762LeufsTer5
XM_024453098.1:c.56202del (TTN) XP_024308866.1:p.Ile18735LeufsTer5
XM_024453099.1:c.37965del (TTN) XP_024308867.1:p.Ile12656LeufsTer5
XM_024453100.1:c.27819del (TTN) XP_024308868.1:p.Ile9274LeufsTer5