Canonical Allele Identifier: CA3047148123

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614351_178614467del , CM000664.2:g.178614351_178614467del GRCh38
NC_000002.11:g.179479078_179479194del , CM000664.1:g.179479078_179479194del GRCh37
NC_000002.10:g.179187323_179187439del NCBI36
NG_011618.3:g.221338_221454del , LRG_391:g.221338_221454del
NG_051363.1:g.96525_96641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41344+1_41345-1del (TTN)
ENST00000342175.11:c.22429+1_22430-1del (TTN)
ENST00000359218.10:c.22228+1_22229-1del (TTN)
ENST00000342175.10:c.22429+1_22430-1del (TTN)
ENST00000342992.10:c.41344+1_41345-1del (TTN)
ENST00000359218.9:c.22228+1_22229-1del (TTN)
ENST00000460472.6:c.21853+1_21854-1del (TTN)
ENST00000589042.5:c.49048+1_49049-1del (TTN)
ENST00000591111.5:c.44125+1_44126-1del (TTN)
ENST00000615779.4:c.44125+1_44126-1del (TTN)
NM_001256850.1:c.44125+1_44126-1del (TTN)
NM_001267550.2:c.49048+1_49049-1del (TTN)
NM_003319.4:c.21853+1_21854-1del (TTN)
NM_133378.4:c.41344+1_41345-1del (TTN)
NM_133432.3:c.22228+1_22229-1del (TTN)
NM_133437.4:c.22429+1_22430-1del (TTN)
NR_038271.1:n.1099_1215del (TTN-AS1)
XM_011511729.1:c.48145+1_48146-1del (TTN)
XM_011511730.1:c.22039+1_22040-1del (TTN)
XM_011511731.1:c.21898+1_21899-1del (TTN)
XM_017004819.1:c.47941+1_47942-1del (TTN)
XM_017004820.1:c.43339+1_43340-1del (TTN)
XM_017004821.1:c.43336+1_43337-1del (TTN)
XM_017004822.1:c.40378+1_40379-1del (TTN)
XM_017004823.1:c.21994+1_21995-1del (TTN)
XM_024453094.1:c.43489+1_43490-1del (TTN)
XM_024453095.1:c.43486+1_43487-1del (TTN)
XM_024453096.1:c.42919+1_42920-1del (TTN)
XM_024453097.1:c.40261+1_40262-1del (TTN)
XM_024453098.1:c.40180+1_40181-1del (TTN)
XM_024453099.1:c.21943+1_21944-1del (TTN)
XM_024453100.1:c.11797+1_11798-1del (TTN)