Canonical Allele Identifier: CA16042366
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 372906
ClinVar RCV Id: RCV000414635
dbSNP Id: rs1057518065

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178624621del , CM000664.2:g.178624621del GRCh38
NC_000002.11:g.179489348del , CM000664.1:g.179489348del GRCh37
NC_000002.10:g.179197593del NCBI36
NG_011618.3:g.211186del , LRG_391:g.211186del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36959del ENSP00000343764.6:p.Asn12320MetfsTer?
ENST00000342175.11:c.18044del ENSP00000340554.6:p.Asn6015MetfsTer?
ENST00000359218.10:c.17843del ENSP00000352154.5:p.Asn5948MetfsTer?
ENST00000342175.10:c.18044del ENSP00000340554.6:p.Asn6015MetfsTer?
ENST00000342992.10:c.36959del ENSP00000343764.6:p.Asn12320MetfsTer?
ENST00000359218.9:c.17843del ENSP00000352154.5:p.Asn5948MetfsTer?
ENST00000460472.6:c.17468del ENSP00000434586.1:p.Asn5823MetfsTer?
ENST00000589042.5:c.44663del MANE Select ENSP00000467141.1:p.Asn14888MetfsTer?
ENST00000591111.5:c.39740del ENSP00000465570.1:p.Asn13247MetfsTer?
ENST00000615779.4:c.39740del ENSP00000483597.1:p.Asn13247MetfsTer?
NM_001256850.1:c.39740del NP_001243779.1:p.Asn13247MetfsTer?
NM_001267550.2:c.44663del MANE Select NP_001254479.2:p.Asn14888MetfsTer?
NM_003319.4:c.17468del NP_003310.4:p.Asn5823MetfsTer?
NM_133378.4:c.36959del NP_596869.4:p.Asn12320MetfsTer?
NM_133432.3:c.17843del NP_597676.3:p.Asn5948MetfsTer?
NM_133437.4:c.18044del NP_597681.4:p.Asn6015MetfsTer?
XM_011511729.1:c.43760del XP_011510031.1:p.Asn14587MetfsTer?
XM_011511730.1:c.17654del XP_011510032.1:p.Asn5885MetfsTer?
XM_011511731.1:c.17513del XP_011510033.1:p.Asn5838MetfsTer?
XM_017004819.1:c.43556del XP_016860308.1:p.Asn14519MetfsTer?
XM_017004820.1:c.38954del XP_016860309.1:p.Asn12985MetfsTer?
XM_017004821.1:c.38951del XP_016860310.1:p.Asn12984MetfsTer?
XM_017004822.1:c.35993del XP_016860311.1:p.Asn11998MetfsTer?
XM_017004823.1:c.17609del XP_016860312.1:p.Asn5870MetfsTer?
XM_024453094.1:c.39104del XP_024308862.1:p.Asn13035MetfsTer?
XM_024453095.1:c.39101del XP_024308863.1:p.Asn13034MetfsTer?
XM_024453096.1:c.38534del XP_024308864.1:p.Asn12845MetfsTer?
XM_024453097.1:c.35876del XP_024308865.1:p.Asn11959MetfsTer?
XM_024453098.1:c.35795del XP_024308866.1:p.Asn11932MetfsTer?
XM_024453099.1:c.17558del XP_024308867.1:p.Asn5853MetfsTer?
XM_024453100.1:c.7412del XP_024308868.1:p.Asn2471MetfsTer?