Canonical Allele Identifier: CA2586965276
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586716del , CM000664.2:g.178586716del GRCh38
NC_000002.11:g.179451443del , CM000664.1:g.179451443del GRCh37
NC_000002.10:g.179159689del NCBI36
NG_011618.3:g.249087del , LRG_391:g.249087del
NG_051363.1:g.68890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.56481del (TTN) ENSP00000343764.6:p.Ala18828LeufsTer26
ENST00000342175.11:c.37566del (TTN) ENSP00000340554.6:p.Ala12523LeufsTer26
ENST00000359218.10:c.37365del (TTN) ENSP00000352154.5:p.Ala12456LeufsTer26
ENST00000342175.10:c.37566del (TTN) ENSP00000340554.6:p.Ala12523LeufsTer26
ENST00000342992.10:c.56481del (TTN) ENSP00000343764.6:p.Ala18828LeufsTer26
ENST00000359218.9:c.37365del (TTN) ENSP00000352154.5:p.Ala12456LeufsTer26
ENST00000460472.6:c.36990del (TTN) ENSP00000434586.1:p.Ala12331LeufsTer26
ENST00000589042.5:c.64185del (TTN) MANE Select ENSP00000467141.1:p.Ala21396LeufsTer26
ENST00000591111.5:c.59262del (TTN) ENSP00000465570.1:p.Ala19755LeufsTer26
ENST00000615779.4:c.59262del (TTN) ENSP00000483597.1:p.Ala19755LeufsTer26
NM_001256850.1:c.59262del (TTN) NP_001243779.1:p.Ala19755LeufsTer26
NM_001267550.2:c.64185del (TTN) MANE Select NP_001254479.2:p.Ala21396LeufsTer26
NM_003319.4:c.36990del (TTN) NP_003310.4:p.Ala12331LeufsTer26
NM_133378.4:c.56481del (TTN) NP_596869.4:p.Ala18828LeufsTer26
NM_133432.3:c.37365del (TTN) NP_597676.3:p.Ala12456LeufsTer26
NM_133437.4:c.37566del (TTN) NP_597681.4:p.Ala12523LeufsTer26
NR_038271.1:n.597-10880del (TTN-AS1)
NR_038272.1:n.3188+1723del (TTN-AS1)
XM_011511729.1:c.63282del (TTN) XP_011510031.1:p.Ala21095LeufsTer26
XM_011511730.1:c.37176del (TTN) XP_011510032.1:p.Ala12393LeufsTer26
XM_011511731.1:c.37035del (TTN) XP_011510033.1:p.Ala12346LeufsTer26
XM_017004819.1:c.63078del (TTN) XP_016860308.1:p.Ala21027LeufsTer26
XM_017004820.1:c.58476del (TTN) XP_016860309.1:p.Ala19493LeufsTer26
XM_017004821.1:c.58473del (TTN) XP_016860310.1:p.Ala19492LeufsTer26
XM_017004822.1:c.55515del (TTN) XP_016860311.1:p.Ala18506LeufsTer26
XM_017004823.1:c.37131del (TTN) XP_016860312.1:p.Ala12378LeufsTer26
XM_024453094.1:c.58626del (TTN) XP_024308862.1:p.Ala19543LeufsTer26
XM_024453095.1:c.58623del (TTN) XP_024308863.1:p.Ala19542LeufsTer26
XM_024453096.1:c.58056del (TTN) XP_024308864.1:p.Ala19353LeufsTer26
XM_024453097.1:c.55398del (TTN) XP_024308865.1:p.Ala18467LeufsTer26
XM_024453098.1:c.55317del (TTN) XP_024308866.1:p.Ala18440LeufsTer26
XM_024453099.1:c.37080del (TTN) XP_024308867.1:p.Ala12361LeufsTer26
XM_024453100.1:c.26934del (TTN) XP_024308868.1:p.Ala8979LeufsTer26