Canonical Allele Identifier: CA645524380
Community Standard Title: NM_001267550.2(TTN):c.45852_45853del (p.His15284GlnfsTer3)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620759_178620760del , CM000664.2:g.178620759_178620760del GRCh38
NC_000002.11:g.179485486_179485487del , CM000664.1:g.179485486_179485487del GRCh37
NC_000002.10:g.179193731_179193732del NCBI36
NG_011618.3:g.215045_215046del , LRG_391:g.215045_215046del
NG_051363.1:g.102933_102934del

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45852_45853del MANE Select NP_001254479.2:p.His15284GlnfsTer3
ENST00000589042.5:c.45852_45853del MANE Select ENSP00000467141.1:p.His15284GlnfsTer3
NM_001256850.1:c.40929_40930del NP_001243779.1:p.His13643GlnfsTer3
NM_003319.4:c.18657_18658del NP_003310.4:p.His6219GlnfsTer3
NM_133378.4:c.38148_38149del NP_596869.4:p.His12716GlnfsTer3
NM_133432.3:c.19032_19033del NP_597676.3:p.His6344GlnfsTer3
NM_133437.4:c.19233_19234del NP_597681.4:p.His6411GlnfsTer3
ENST00000342175.10:c.19233_19234del ENSP00000340554.6:p.His6411GlnfsTer3
ENST00000342175.11:c.19233_19234del ENSP00000340554.6:p.His6411GlnfsTer3
ENST00000342992.10:c.38148_38149del ENSP00000343764.6:p.His12716GlnfsTer3
ENST00000342992.11:c.38148_38149del ENSP00000343764.6:p.His12716GlnfsTer3
ENST00000359218.10:c.19032_19033del ENSP00000352154.5:p.His6344GlnfsTer3
ENST00000359218.9:c.19032_19033del ENSP00000352154.5:p.His6344GlnfsTer3
ENST00000460472.6:c.18657_18658del ENSP00000434586.1:p.His6219GlnfsTer3
ENST00000591111.5:c.40929_40930del ENSP00000465570.1:p.His13643GlnfsTer3
ENST00000615779.4:c.40929_40930del ENSP00000483597.1:p.His13643GlnfsTer3
XM_011511729.1:c.44949_44950del XP_011510031.1:p.His14983GlnfsTer3
XM_011511730.1:c.18843_18844del XP_011510032.1:p.His6281GlnfsTer3
XM_011511731.1:c.18702_18703del XP_011510033.1:p.His6234GlnfsTer3
XM_017004819.1:c.44745_44746del XP_016860308.1:p.His14915GlnfsTer3
XM_017004820.1:c.40143_40144del XP_016860309.1:p.His13381GlnfsTer3
XM_017004821.1:c.40140_40141del XP_016860310.1:p.His13380GlnfsTer3
XM_017004822.1:c.37182_37183del XP_016860311.1:p.His12394GlnfsTer3
XM_017004823.1:c.18798_18799del XP_016860312.1:p.His6266GlnfsTer3
XM_024453094.1:c.40293_40294del XP_024308862.1:p.His13431GlnfsTer3
XM_024453095.1:c.40290_40291del XP_024308863.1:p.His13430GlnfsTer3
XM_024453096.1:c.39723_39724del XP_024308864.1:p.His13241GlnfsTer3
XM_024453097.1:c.37065_37066del XP_024308865.1:p.His12355GlnfsTer3
XM_024453098.1:c.36984_36985del XP_024308866.1:p.His12328GlnfsTer3
XM_024453099.1:c.18747_18748del XP_024308867.1:p.His6249GlnfsTer3
XM_024453100.1:c.8601_8602del XP_024308868.1:p.His2867GlnfsTer3