Canonical Allele Identifier: CA2577171296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618184_178618186del , CM000664.2:g.178618184_178618186del GRCh38
NC_000002.11:g.179482911_179482913del , CM000664.1:g.179482911_179482913del GRCh37
NC_000002.10:g.179191156_179191158del NCBI36
NG_011618.3:g.217620_217622del , LRG_391:g.217620_217622del
NG_051363.1:g.100358_100360del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39565+6_39565+8del (TTN) ENSP00000343764.6:n.39565+6_39565+8del
ENST00000342175.11:c.20650+6_20650+8del (TTN) ENSP00000340554.6:n.20650+6_20650+8del
ENST00000359218.10:c.20449+6_20449+8del (TTN) ENSP00000352154.5:n.20449+6_20449+8del
ENST00000342175.10:c.20650+6_20650+8del (TTN) ENSP00000340554.6:n.20650+6_20650+8del
ENST00000342992.10:c.39565+6_39565+8del (TTN) ENSP00000343764.6:n.39565+6_39565+8del
ENST00000359218.9:c.20449+6_20449+8del (TTN) ENSP00000352154.5:n.20449+6_20449+8del
ENST00000460472.6:c.20074+6_20074+8del (TTN) ENSP00000434586.1:n.20074+6_20074+8del
ENST00000589042.5:c.47269+6_47269+8del (TTN) MANE Select ENSP00000467141.1:n.47269+6_47269+8del
ENST00000591111.5:c.42346+6_42346+8del (TTN) ENSP00000465570.1:n.42346+6_42346+8del
ENST00000615779.4:c.42346+6_42346+8del (TTN) ENSP00000483597.1:n.42346+6_42346+8del
NM_001256850.1:c.42346+6_42346+8del (TTN) NP_001243779.1:n.42346+6_42346+8del
NM_001267550.2:c.47269+6_47269+8del (TTN) MANE Select NP_001254479.2:n.47269+6_47269+8del
NM_003319.4:c.20074+6_20074+8del (TTN) NP_003310.4:n.20074+6_20074+8del
NM_133378.4:c.39565+6_39565+8del (TTN) NP_596869.4:n.39565+6_39565+8del
NM_133432.3:c.20449+6_20449+8del (TTN) NP_597676.3:n.20449+6_20449+8del
NM_133437.4:c.20650+6_20650+8del (TTN) NP_597681.4:n.20650+6_20650+8del
NR_038271.1:n.1605-1569_1605-1567del (TTN-AS1)
XM_011511729.1:c.46366+6_46366+8del (TTN) XP_011510031.1:n.46366+6_46366+8del
XM_011511730.1:c.20260+6_20260+8del (TTN) XP_011510032.1:n.20260+6_20260+8del
XM_011511731.1:c.20119+6_20119+8del (TTN) XP_011510033.1:n.20119+6_20119+8del
XM_017004819.1:c.46162+6_46162+8del (TTN) XP_016860308.1:n.46162+6_46162+8del
XM_017004820.1:c.41560+6_41560+8del (TTN) XP_016860309.1:n.41560+6_41560+8del
XM_017004821.1:c.41557+6_41557+8del (TTN) XP_016860310.1:n.41557+6_41557+8del
XM_017004822.1:c.38599+6_38599+8del (TTN) XP_016860311.1:n.38599+6_38599+8del
XM_017004823.1:c.20215+6_20215+8del (TTN) XP_016860312.1:n.20215+6_20215+8del
XM_024453094.1:c.41710+6_41710+8del (TTN) XP_024308862.1:n.41710+6_41710+8del
XM_024453095.1:c.41707+6_41707+8del (TTN) XP_024308863.1:n.41707+6_41707+8del
XM_024453096.1:c.41140+6_41140+8del (TTN) XP_024308864.1:n.41140+6_41140+8del
XM_024453097.1:c.38482+6_38482+8del (TTN) XP_024308865.1:n.38482+6_38482+8del
XM_024453098.1:c.38401+6_38401+8del (TTN) XP_024308866.1:n.38401+6_38401+8del
XM_024453099.1:c.20164+6_20164+8del (TTN) XP_024308867.1:n.20164+6_20164+8del
XM_024453100.1:c.10018+6_10018+8del (TTN) XP_024308868.1:n.10018+6_10018+8del