Canonical Allele Identifier: CA309443

Linked Data

ClinVar Variation Id: 202480
ClinVar RCV Id: RCV000184345
dbSNP Id: rs794729352

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562073del , CM000664.2:g.178562073del GRCh38
NC_000002.11:g.179426800del , CM000664.1:g.179426800del GRCh37
NC_000002.10:g.179135046del NCBI36
NG_011618.3:g.273730del , LRG_391:g.273730del
NG_051363.1:g.44247del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76355del (TTN) ENSP00000343764.6:p.Leu25452HisfsTer25
ENST00000342175.11:c.57440del (TTN) ENSP00000340554.6:p.Leu19147HisfsTer25
ENST00000359218.10:c.57239del (TTN) ENSP00000352154.5:p.Leu19080HisfsTer25
ENST00000342175.10:c.57440del (TTN) ENSP00000340554.6:p.Leu19147HisfsTer25
ENST00000342992.10:c.76355del (TTN) ENSP00000343764.6:p.Leu25452HisfsTer25
ENST00000359218.9:c.57239del (TTN) ENSP00000352154.5:p.Leu19080HisfsTer25
ENST00000460472.6:c.56864del (TTN) ENSP00000434586.1:p.Leu18955HisfsTer25
ENST00000589042.5:c.84059del (TTN) MANE Select ENSP00000467141.1:p.Leu28020HisfsTer25
ENST00000591111.5:c.79136del (TTN) ENSP00000465570.1:p.Leu26379HisfsTer25
ENST00000615779.4:c.79136del (TTN) ENSP00000483597.1:p.Leu26379HisfsTer25
NM_001256850.1:c.79136del (TTN) NP_001243779.1:p.Leu26379HisfsTer25
NM_001267550.2:c.84059del (TTN) MANE Select NP_001254479.2:p.Leu28020HisfsTer25
NM_003319.4:c.56864del (TTN) NP_003310.4:p.Leu18955HisfsTer25
NM_133378.4:c.76355del (TTN) NP_596869.4:p.Leu25452HisfsTer25
NM_133432.3:c.57239del (TTN) NP_597676.3:p.Leu19080HisfsTer25
NM_133437.4:c.57440del (TTN) NP_597681.4:p.Leu19147HisfsTer25
NR_038271.1:n.447-9227del (TTN-AS1)
NR_038272.1:n.2043+19712del (TTN-AS1)
XM_011511729.1:c.83156del (TTN) XP_011510031.1:p.Leu27719HisfsTer25
XM_011511730.1:c.57050del (TTN) XP_011510032.1:p.Leu19017HisfsTer25
XM_011511731.1:c.56909del (TTN) XP_011510033.1:p.Leu18970HisfsTer25
XM_017004819.1:c.82952del (TTN) XP_016860308.1:p.Leu27651HisfsTer25
XM_017004820.1:c.78350del (TTN) XP_016860309.1:p.Leu26117HisfsTer25
XM_017004821.1:c.78347del (TTN) XP_016860310.1:p.Leu26116HisfsTer25
XM_017004822.1:c.75389del (TTN) XP_016860311.1:p.Leu25130HisfsTer25
XM_017004823.1:c.57005del (TTN) XP_016860312.1:p.Leu19002HisfsTer25
XM_024453094.1:c.78500del (TTN) XP_024308862.1:p.Leu26167HisfsTer25
XM_024453095.1:c.78497del (TTN) XP_024308863.1:p.Leu26166HisfsTer25
XM_024453096.1:c.77930del (TTN) XP_024308864.1:p.Leu25977HisfsTer25
XM_024453097.1:c.75272del (TTN) XP_024308865.1:p.Leu25091HisfsTer25
XM_024453098.1:c.75191del (TTN) XP_024308866.1:p.Leu25064HisfsTer25
XM_024453099.1:c.56954del (TTN) XP_024308867.1:p.Leu18985HisfsTer25
XM_024453100.1:c.46808del (TTN) XP_024308868.1:p.Leu15603HisfsTer25