Canonical Allele Identifier: CA645293794

Linked Data

ClinVar Variation Id: 426390
dbSNP Id: rs1085307600

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578700_178578701dup , CM000664.2:g.178578700_178578701dup GRCh38
NC_000002.11:g.179443427_179443428dup , CM000664.1:g.179443427_179443428dup GRCh37
NC_000002.10:g.179151673_179151674dup NCBI36
NG_011618.3:g.257105_257106dup , LRG_391:g.257105_257106dup
NG_051363.1:g.60874_60875dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60538_60539dup (TTN) ENSP00000343764.6:p.Pro20181HisfsTer15
ENST00000342175.11:c.41623_41624dup (TTN) ENSP00000340554.6:p.Pro13876HisfsTer15
ENST00000359218.10:c.41422_41423dup (TTN) ENSP00000352154.5:p.Pro13809HisfsTer15
ENST00000342175.10:c.41623_41624dup (TTN) ENSP00000340554.6:p.Pro13876HisfsTer15
ENST00000342992.10:c.60538_60539dup (TTN) ENSP00000343764.6:p.Pro20181HisfsTer15
ENST00000359218.9:c.41422_41423dup (TTN) ENSP00000352154.5:p.Pro13809HisfsTer15
ENST00000460472.6:c.41047_41048dup (TTN) ENSP00000434586.1:p.Pro13684HisfsTer15
ENST00000589042.5:c.68242_68243dup (TTN) MANE Select ENSP00000467141.1:p.Pro22749HisfsTer15
ENST00000591111.5:c.63319_63320dup (TTN) ENSP00000465570.1:p.Pro21108HisfsTer15
ENST00000615779.4:c.63319_63320dup (TTN) ENSP00000483597.1:p.Pro21108HisfsTer15
NM_001256850.1:c.63319_63320dup (TTN) NP_001243779.1:p.Pro21108HisfsTer15
NM_001267550.2:c.68242_68243dup (TTN) MANE Select NP_001254479.2:p.Pro22749HisfsTer15
NM_003319.4:c.41047_41048dup (TTN) NP_003310.4:p.Pro13684HisfsTer15
NM_133378.4:c.60538_60539dup (TTN) NP_596869.4:p.Pro20181HisfsTer15
NM_133432.3:c.41422_41423dup (TTN) NP_597676.3:p.Pro13809HisfsTer15
NM_133437.4:c.41623_41624dup (TTN) NP_597681.4:p.Pro13876HisfsTer15
NR_038271.1:n.596+7251_596+7252dup (TTN-AS1)
NR_038272.1:n.2044-3872_2044-3871dup (TTN-AS1)
XM_011511729.1:c.67339_67340dup (TTN) XP_011510031.1:p.Pro22448HisfsTer15
XM_011511730.1:c.41233_41234dup (TTN) XP_011510032.1:p.Pro13746HisfsTer15
XM_011511731.1:c.41092_41093dup (TTN) XP_011510033.1:p.Pro13699HisfsTer15
XM_017004819.1:c.67135_67136dup (TTN) XP_016860308.1:p.Pro22380HisfsTer15
XM_017004820.1:c.62533_62534dup (TTN) XP_016860309.1:p.Pro20846HisfsTer15
XM_017004821.1:c.62530_62531dup (TTN) XP_016860310.1:p.Pro20845HisfsTer15
XM_017004822.1:c.59572_59573dup (TTN) XP_016860311.1:p.Pro19859HisfsTer15
XM_017004823.1:c.41188_41189dup (TTN) XP_016860312.1:p.Pro13731HisfsTer15
XM_024453094.1:c.62683_62684dup (TTN) XP_024308862.1:p.Pro20896HisfsTer15
XM_024453095.1:c.62680_62681dup (TTN) XP_024308863.1:p.Pro20895HisfsTer15
XM_024453096.1:c.62113_62114dup (TTN) XP_024308864.1:p.Pro20706HisfsTer15
XM_024453097.1:c.59455_59456dup (TTN) XP_024308865.1:p.Pro19820HisfsTer15
XM_024453098.1:c.59374_59375dup (TTN) XP_024308866.1:p.Pro19793HisfsTer15
XM_024453099.1:c.41137_41138dup (TTN) XP_024308867.1:p.Pro13714HisfsTer15
XM_024453100.1:c.30991_30992dup (TTN) XP_024308868.1:p.Pro10332HisfsTer15