Canonical Allele Identifier: CA16610362

Linked Data

ClinVar Variation Id: 405135
dbSNP Id: rs1060500572

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563086del , CM000664.2:g.178563086del GRCh38
NC_000002.11:g.179427813del , CM000664.1:g.179427813del GRCh37
NC_000002.10:g.179136059del NCBI36
NG_011618.3:g.272719del , LRG_391:g.272719del
NG_051363.1:g.45260del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.75344del (TTN) ENSP00000343764.6:p.Lys25115ArgfsTer?
ENST00000342175.11:c.56429del (TTN) ENSP00000340554.6:p.Lys18810ArgfsTer?
ENST00000359218.10:c.56228del (TTN) ENSP00000352154.5:p.Lys18743ArgfsTer?
ENST00000342175.10:c.56429del (TTN) ENSP00000340554.6:p.Lys18810ArgfsTer?
ENST00000342992.10:c.75344del (TTN) ENSP00000343764.6:p.Lys25115ArgfsTer?
ENST00000359218.9:c.56228del (TTN) ENSP00000352154.5:p.Lys18743ArgfsTer?
ENST00000460472.6:c.55853del (TTN) ENSP00000434586.1:p.Lys18618ArgfsTer?
ENST00000589042.5:c.83048del (TTN) MANE Select ENSP00000467141.1:p.Lys27683ArgfsTer?
ENST00000591111.5:c.78125del (TTN) ENSP00000465570.1:p.Lys26042ArgfsTer?
ENST00000615779.4:c.78125del (TTN) ENSP00000483597.1:p.Lys26042ArgfsTer?
NM_001256850.1:c.78125del (TTN) NP_001243779.1:p.Lys26042ArgfsTer?
NM_001267550.2:c.83048del (TTN) MANE Select NP_001254479.2:p.Lys27683ArgfsTer?
NM_003319.4:c.55853del (TTN) NP_003310.4:p.Lys18618ArgfsTer?
NM_133378.4:c.75344del (TTN) NP_596869.4:p.Lys25115ArgfsTer?
NM_133432.3:c.56228del (TTN) NP_597676.3:p.Lys18743ArgfsTer?
NM_133437.4:c.56429del (TTN) NP_597681.4:p.Lys18810ArgfsTer?
NR_038271.1:n.447-8214del (TTN-AS1)
NR_038272.1:n.2044-19486del (TTN-AS1)
XM_011511729.1:c.82145del (TTN) XP_011510031.1:p.Lys27382ArgfsTer?
XM_011511730.1:c.56039del (TTN) XP_011510032.1:p.Lys18680ArgfsTer?
XM_011511731.1:c.55898del (TTN) XP_011510033.1:p.Lys18633ArgfsTer?
XM_017004819.1:c.81941del (TTN) XP_016860308.1:p.Lys27314ArgfsTer?
XM_017004820.1:c.77339del (TTN) XP_016860309.1:p.Lys25780ArgfsTer?
XM_017004821.1:c.77336del (TTN) XP_016860310.1:p.Lys25779ArgfsTer?
XM_017004822.1:c.74378del (TTN) XP_016860311.1:p.Lys24793ArgfsTer?
XM_017004823.1:c.55994del (TTN) XP_016860312.1:p.Lys18665ArgfsTer?
XM_024453094.1:c.77489del (TTN) XP_024308862.1:p.Lys25830ArgfsTer?
XM_024453095.1:c.77486del (TTN) XP_024308863.1:p.Lys25829ArgfsTer?
XM_024453096.1:c.76919del (TTN) XP_024308864.1:p.Lys25640ArgfsTer?
XM_024453097.1:c.74261del (TTN) XP_024308865.1:p.Lys24754ArgfsTer?
XM_024453098.1:c.74180del (TTN) XP_024308866.1:p.Lys24727ArgfsTer?
XM_024453099.1:c.55943del (TTN) XP_024308867.1:p.Lys18648ArgfsTer?
XM_024453100.1:c.45797del (TTN) XP_024308868.1:p.Lys15266ArgfsTer?