Canonical Allele Identifier: CA273556

Linked Data

ClinVar Variation Id: 178819
dbSNP Id: rs727504466

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591326del , CM000664.2:g.178591326del GRCh38
NC_000002.11:g.179456053del , CM000664.1:g.179456053del GRCh37
NC_000002.10:g.179164299del NCBI36
NG_011618.3:g.244477del , LRG_391:g.244477del
NG_051363.1:g.73500del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52695del (TTN) ENSP00000343764.6:p.Ser17566GlnfsTer9
ENST00000342175.11:c.33780del (TTN) ENSP00000340554.6:p.Ser11261GlnfsTer9
ENST00000359218.10:c.33579del (TTN) ENSP00000352154.5:p.Ser11194GlnfsTer9
ENST00000342175.10:c.33780del (TTN) ENSP00000340554.6:p.Ser11261GlnfsTer9
ENST00000342992.10:c.52695del (TTN) ENSP00000343764.6:p.Ser17566GlnfsTer9
ENST00000359218.9:c.33579del (TTN) ENSP00000352154.5:p.Ser11194GlnfsTer9
ENST00000460472.6:c.33204del (TTN) ENSP00000434586.1:p.Ser11069GlnfsTer9
ENST00000589042.5:c.60399del (TTN) MANE Select ENSP00000467141.1:p.Ser20134GlnfsTer9
ENST00000591111.5:c.55476del (TTN) ENSP00000465570.1:p.Ser18493GlnfsTer9
ENST00000615779.4:c.55476del (TTN) ENSP00000483597.1:p.Ser18493GlnfsTer9
NM_001256850.1:c.55476del (TTN) NP_001243779.1:p.Ser18493GlnfsTer9
NM_001267550.2:c.60399del (TTN) MANE Select NP_001254479.2:p.Ser20134GlnfsTer9
NM_003319.4:c.33204del (TTN) NP_003310.4:p.Ser11069GlnfsTer9
NM_133378.4:c.52695del (TTN) NP_596869.4:p.Ser17566GlnfsTer9
NM_133432.3:c.33579del (TTN) NP_597676.3:p.Ser11194GlnfsTer9
NM_133437.4:c.33780del (TTN) NP_597681.4:p.Ser11261GlnfsTer9
NR_038271.1:n.597-6270del (TTN-AS1)
NR_038272.1:n.3364+12del (TTN-AS1)
XM_011511729.1:c.59496del (TTN) XP_011510031.1:p.Ser19833GlnfsTer9
XM_011511730.1:c.33390del (TTN) XP_011510032.1:p.Ser11131GlnfsTer9
XM_011511731.1:c.33249del (TTN) XP_011510033.1:p.Ser11084GlnfsTer9
XM_017004819.1:c.59292del (TTN) XP_016860308.1:p.Ser19765GlnfsTer9
XM_017004820.1:c.54690del (TTN) XP_016860309.1:p.Ser18231GlnfsTer9
XM_017004821.1:c.54687del (TTN) XP_016860310.1:p.Ser18230GlnfsTer9
XM_017004822.1:c.51729del (TTN) XP_016860311.1:p.Ser17244GlnfsTer9
XM_017004823.1:c.33345del (TTN) XP_016860312.1:p.Ser11116GlnfsTer9
XM_024453094.1:c.54840del (TTN) XP_024308862.1:p.Ser18281GlnfsTer9
XM_024453095.1:c.54837del (TTN) XP_024308863.1:p.Ser18280GlnfsTer9
XM_024453096.1:c.54270del (TTN) XP_024308864.1:p.Ser18091GlnfsTer9
XM_024453097.1:c.51612del (TTN) XP_024308865.1:p.Ser17205GlnfsTer9
XM_024453098.1:c.51531del (TTN) XP_024308866.1:p.Ser17178GlnfsTer9
XM_024453099.1:c.33294del (TTN) XP_024308867.1:p.Ser11099GlnfsTer9
XM_024453100.1:c.23148del (TTN) XP_024308868.1:p.Ser7717GlnfsTer9