Canonical Allele Identifier: CA351822

Linked Data

ClinVar Variation Id: 222874
ClinVar RCV Id: RCV000208165
dbSNP Id: rs869025554

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557413del , CM000664.2:g.178557413del GRCh38
NC_000002.11:g.179422140del , CM000664.1:g.179422140del GRCh37
NC_000002.10:g.179130386del NCBI36
NG_011618.3:g.278390del , LRG_391:g.278390del
NG_051363.1:g.39587del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80145del (TTN) ENSP00000343764.6:p.Leu26715PhefsTer?
ENST00000342175.11:c.61230del (TTN) ENSP00000340554.6:p.Leu20410PhefsTer?
ENST00000359218.10:c.61029del (TTN) ENSP00000352154.5:p.Leu20343PhefsTer?
ENST00000342175.10:c.61230del (TTN) ENSP00000340554.6:p.Leu20410PhefsTer?
ENST00000342992.10:c.80145del (TTN) ENSP00000343764.6:p.Leu26715PhefsTer?
ENST00000359218.9:c.61029del (TTN) ENSP00000352154.5:p.Leu20343PhefsTer?
ENST00000460472.6:c.60654del (TTN) ENSP00000434586.1:p.Leu20218PhefsTer?
ENST00000589042.5:c.87849del (TTN) MANE Select ENSP00000467141.1:p.Leu29283PhefsTer?
ENST00000591111.5:c.82926del (TTN) ENSP00000465570.1:p.Leu27642PhefsTer?
ENST00000615779.4:c.82926del (TTN) ENSP00000483597.1:p.Leu27642PhefsTer?
NM_001256850.1:c.82926del (TTN) NP_001243779.1:p.Leu27642PhefsTer?
NM_001267550.2:c.87849del (TTN) MANE Select NP_001254479.2:p.Leu29283PhefsTer?
NM_003319.4:c.60654del (TTN) NP_003310.4:p.Leu20218PhefsTer?
NM_133378.4:c.80145del (TTN) NP_596869.4:p.Leu26715PhefsTer?
NM_133432.3:c.61029del (TTN) NP_597676.3:p.Leu20343PhefsTer?
NM_133437.4:c.61230del (TTN) NP_597681.4:p.Leu20410PhefsTer?
NR_038271.1:n.447-13887del (TTN-AS1)
NR_038272.1:n.2043+15052del (TTN-AS1)
XM_011511729.1:c.86946del (TTN) XP_011510031.1:p.Leu28982PhefsTer?
XM_011511730.1:c.60840del (TTN) XP_011510032.1:p.Leu20280PhefsTer?
XM_011511731.1:c.60699del (TTN) XP_011510033.1:p.Leu20233PhefsTer?
XM_017004819.1:c.86742del (TTN) XP_016860308.1:p.Leu28914PhefsTer?
XM_017004820.1:c.82140del (TTN) XP_016860309.1:p.Leu27380PhefsTer?
XM_017004821.1:c.82137del (TTN) XP_016860310.1:p.Leu27379PhefsTer?
XM_017004822.1:c.79179del (TTN) XP_016860311.1:p.Leu26393PhefsTer?
XM_017004823.1:c.60795del (TTN) XP_016860312.1:p.Leu20265PhefsTer?
XM_024453094.1:c.82290del (TTN) XP_024308862.1:p.Leu27430PhefsTer?
XM_024453095.1:c.82287del (TTN) XP_024308863.1:p.Leu27429PhefsTer?
XM_024453096.1:c.81720del (TTN) XP_024308864.1:p.Leu27240PhefsTer?
XM_024453097.1:c.79062del (TTN) XP_024308865.1:p.Leu26354PhefsTer?
XM_024453098.1:c.78981del (TTN) XP_024308866.1:p.Leu26327PhefsTer?
XM_024453099.1:c.60744del (TTN) XP_024308867.1:p.Leu20248PhefsTer?
XM_024453100.1:c.50598del (TTN) XP_024308868.1:p.Leu16866PhefsTer?