Canonical Allele Identifier: CA2586965313

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589409_178589413del , CM000664.2:g.178589409_178589413del GRCh38
NC_000002.11:g.179454136_179454140del , CM000664.1:g.179454136_179454140del GRCh37
NC_000002.10:g.179162382_179162386del NCBI36
NG_011618.3:g.246390_246394del , LRG_391:g.246390_246394del
NG_051363.1:g.71583_71587del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54608_54612del (TTN) ENSP00000343764.6:p.Leu18203ProfsTer16
ENST00000342175.11:c.35693_35697del (TTN) ENSP00000340554.6:p.Leu11898ProfsTer16
ENST00000359218.10:c.35492_35496del (TTN) ENSP00000352154.5:p.Leu11831ProfsTer16
ENST00000342175.10:c.35693_35697del (TTN) ENSP00000340554.6:p.Leu11898ProfsTer16
ENST00000342992.10:c.54608_54612del (TTN) ENSP00000343764.6:p.Leu18203ProfsTer16
ENST00000359218.9:c.35492_35496del (TTN) ENSP00000352154.5:p.Leu11831ProfsTer16
ENST00000460472.6:c.35117_35121del (TTN) ENSP00000434586.1:p.Leu11706ProfsTer16
ENST00000589042.5:c.62312_62316del (TTN) MANE Select ENSP00000467141.1:p.Leu20771ProfsTer16
ENST00000591111.5:c.57389_57393del (TTN) ENSP00000465570.1:p.Leu19130ProfsTer16
ENST00000615779.4:c.57389_57393del (TTN) ENSP00000483597.1:p.Leu19130ProfsTer16
NM_001256850.1:c.57389_57393del (TTN) NP_001243779.1:p.Leu19130ProfsTer16
NM_001267550.2:c.62312_62316del (TTN) MANE Select NP_001254479.2:p.Leu20771ProfsTer16
NM_003319.4:c.35117_35121del (TTN) NP_003310.4:p.Leu11706ProfsTer16
NM_133378.4:c.54608_54612del (TTN) NP_596869.4:p.Leu18203ProfsTer16
NM_133432.3:c.35492_35496del (TTN) NP_597676.3:p.Leu11831ProfsTer16
NM_133437.4:c.35693_35697del (TTN) NP_597681.4:p.Leu11898ProfsTer16
NR_038271.1:n.597-8187_597-8183del (TTN-AS1)
NR_038272.1:n.3189-1730_3189-1726del (TTN-AS1)
XM_011511729.1:c.61409_61413del (TTN) XP_011510031.1:p.Leu20470ProfsTer16
XM_011511730.1:c.35303_35307del (TTN) XP_011510032.1:p.Leu11768ProfsTer16
XM_011511731.1:c.35162_35166del (TTN) XP_011510033.1:p.Leu11721ProfsTer16
XM_017004819.1:c.61205_61209del (TTN) XP_016860308.1:p.Leu20402ProfsTer16
XM_017004820.1:c.56603_56607del (TTN) XP_016860309.1:p.Leu18868ProfsTer16
XM_017004821.1:c.56600_56604del (TTN) XP_016860310.1:p.Leu18867ProfsTer16
XM_017004822.1:c.53642_53646del (TTN) XP_016860311.1:p.Leu17881ProfsTer16
XM_017004823.1:c.35258_35262del (TTN) XP_016860312.1:p.Leu11753ProfsTer16
XM_024453094.1:c.56753_56757del (TTN) XP_024308862.1:p.Leu18918ProfsTer16
XM_024453095.1:c.56750_56754del (TTN) XP_024308863.1:p.Leu18917ProfsTer16
XM_024453096.1:c.56183_56187del (TTN) XP_024308864.1:p.Leu18728ProfsTer16
XM_024453097.1:c.53525_53529del (TTN) XP_024308865.1:p.Leu17842ProfsTer16
XM_024453098.1:c.53444_53448del (TTN) XP_024308866.1:p.Leu17815ProfsTer16
XM_024453099.1:c.35207_35211del (TTN) XP_024308867.1:p.Leu11736ProfsTer16
XM_024453100.1:c.25061_25065del (TTN) XP_024308868.1:p.Leu8354ProfsTer16