Canonical Allele Identifier: CA16610432

Linked Data

ClinVar Variation Id: 404768
ClinVar RCV Id: RCV000473588
dbSNP Id: rs1060500442

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591104del , CM000664.2:g.178591104del GRCh38
NC_000002.11:g.179455831del , CM000664.1:g.179455831del GRCh37
NC_000002.10:g.179164077del NCBI36
NG_011618.3:g.244699del , LRG_391:g.244699del
NG_051363.1:g.73278del

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.34002del ENSP00000340554.6:p.Tyr11334Ter
ENST00000359218.10:n.33801del ENSP00000352154.5:p.Tyr11267Ter
ENST00000342175.10:c.34002del ENSP00000340554.6:p.Tyr11334Ter
ENST00000342992.10:c.52917del ENSP00000343764.6:p.Tyr17639Ter
ENST00000359218.9:c.33801del ENSP00000352154.5:p.Tyr11267Ter
ENST00000460472.6:c.33426del ENSP00000434586.1:p.Tyr11142Ter
ENST00000589042.5:c.60621del MANE Select ENSP00000467141.1:p.Tyr20207Ter
ENST00000591111.5:c.55698del ENSP00000465570.1:p.Tyr18566Ter
ENST00000615779.4:c.55698del ENSP00000483597.1:p.Tyr18566Ter
NM_001256850.1:c.55698del (TTN) NP_001243779.1:p.Tyr18566Ter
NM_001267550.2:c.60621del (TTN) MANE Select NP_001254479.2:p.Tyr20207Ter
NM_003319.4:c.33426del (TTN) NP_003310.4:p.Tyr11142Ter
NM_133378.4:c.52917del (TTN) NP_596869.4:p.Tyr17639Ter
NM_133432.3:c.33801del (TTN) NP_597676.3:p.Tyr11267Ter
NM_133437.4:c.34002del (TTN) NP_597681.4:p.Tyr11334Ter
NR_038271.1:n.597-6492del (TTN-AS1)
NR_038272.1:n.3189-35del (TTN-AS1)
XM_011511729.1:c.59718del (TTN) XP_011510031.1:p.Tyr19906Ter
XM_011511730.1:c.33612del (TTN) XP_011510032.1:p.Tyr11204Ter
XM_011511731.1:c.33471del (TTN) XP_011510033.1:p.Tyr11157Ter
XM_017004819.1:c.59514del (TTN) XP_016860308.1:p.Tyr19838Ter
XM_017004820.1:c.54912del (TTN) XP_016860309.1:p.Tyr18304Ter
XM_017004821.1:c.54909del (TTN) XP_016860310.1:p.Tyr18303Ter
XM_017004822.1:c.51951del (TTN) XP_016860311.1:p.Tyr17317Ter
XM_017004823.1:c.33567del (TTN) XP_016860312.1:p.Tyr11189Ter
XM_024453094.1:c.55062del (TTN) XP_024308862.1:p.Tyr18354Ter
XM_024453095.1:c.55059del (TTN) XP_024308863.1:p.Tyr18353Ter
XM_024453096.1:c.54492del (TTN) XP_024308864.1:p.Tyr18164Ter
XM_024453097.1:c.51834del (TTN) XP_024308865.1:p.Tyr17278Ter
XM_024453098.1:c.51753del (TTN) XP_024308866.1:p.Tyr17251Ter
XM_024453099.1:c.33516del (TTN) XP_024308867.1:p.Tyr11172Ter
XM_024453100.1:c.23370del (TTN) XP_024308868.1:p.Tyr7790Ter