Canonical Allele Identifier: CA1997584
Community Standard Title: NC_000002.12:g.178664446_178664475del
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178664446_178664475del , CM000664.2:g.178664446_178664475del GRCh38
NC_000002.11:g.179529173_179529202del , CM000664.1:g.179529173_179529202del GRCh37
NC_000002.10:g.179237418_179237447del NCBI36
NG_011618.3:g.171330_171359del , LRG_391:g.171330_171359del

Transcript Alleles

HGVS Amino-acid Change
NM_001256850.1:c.34265-1418_34265-1389del NP_001243779.1:n.34265-1418_34265-1389del
NM_001267550.2:c.36267_36280+16del
NM_003319.4:c.13283-22156_13283-22127del NP_003310.4:n.13283-22156_13283-22127del
NM_133378.4:c.31484-1418_31484-1389del NP_596869.4:n.31484-1418_31484-1389del
NM_133432.3:c.13658-22156_13658-22127del NP_597676.3:n.13658-22156_13658-22127del
NM_133437.4:c.13859-22156_13859-22127del NP_597681.4:n.13859-22156_13859-22127del
ENST00000342175.10:c.13859-22156_13859-22127del ENSP00000340554.6:n.13859-22156_13859-22127del
ENST00000342175.11:c.13859-22156_13859-22127del ENSP00000340554.6:n.13859-22156_13859-22127del
ENST00000342992.10:c.31484-1418_31484-1389del ENSP00000343764.6:n.31484-1418_31484-1389del
ENST00000342992.11:c.31484-1418_31484-1389del ENSP00000343764.6:n.31484-1418_31484-1389del
ENST00000359218.10:c.13658-22156_13658-22127del ENSP00000352154.5:n.13658-22156_13658-22127del
ENST00000359218.9:c.13658-22156_13658-22127del ENSP00000352154.5:n.13658-22156_13658-22127del
ENST00000414766.5:c.2440+9160_2440+9189del ENSP00000401501.1:n.2440+9160_2440+9189del
ENST00000425332.2:c.458_471+16del
ENST00000460472.6:c.13283-22156_13283-22127del ENSP00000434586.1:n.13283-22156_13283-22127del
ENST00000589042.5:c.36267_36280+16del
ENST00000591111.5:c.34265-5679_34265-5650del ENSP00000465570.1:n.34265-5679_34265-5650del
ENST00000615779.4:c.34265-1418_34265-1389del ENSP00000483597.1:n.34265-1418_34265-1389del
XM_011511729.1:c.35364_35377+16del
XM_011511730.1:c.13469-22156_13469-22127del XP_011510032.1:n.13469-22156_13469-22127del
XM_011511731.1:c.13328-22156_13328-22127del XP_011510033.1:n.13328-22156_13328-22127del
XM_017004819.1:c.35160_35173+16del
XM_017004820.1:c.31487-1418_31487-1389del XP_016860309.1:n.31487-1418_31487-1389del
XM_017004821.1:c.31484-1418_31484-1389del XP_016860310.1:n.31484-1418_31484-1389del
XM_017004822.1:c.31858+9160_31858+9189del XP_016860311.1:n.31858+9160_31858+9189del
XM_017004823.1:c.13424-22156_13424-22127del XP_016860312.1:n.13424-22156_13424-22127del
XM_024453094.1:c.33299-1418_33299-1389del XP_024308862.1:n.33299-1418_33299-1389del
XM_024453095.1:c.33296-1418_33296-1389del XP_024308863.1:n.33296-1418_33296-1389del
XM_024453096.1:c.32729-1418_32729-1389del XP_024308864.1:n.32729-1418_32729-1389del
XM_024453097.1:c.31690+9160_31690+9189del XP_024308865.1:n.31690+9160_31690+9189del
XM_024453098.1:c.31609+9160_31609+9189del XP_024308866.1:n.31609+9160_31609+9189del
XM_024453099.1:c.13424-22156_13424-22127del XP_024308867.1:n.13424-22156_13424-22127del