Canonical Allele Identifier: CA2577171174

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607741_178607744del , CM000664.2:g.178607741_178607744del GRCh38
NC_000002.11:g.179472468_179472471del , CM000664.1:g.179472468_179472471del GRCh37
NC_000002.10:g.179180713_179180716del NCBI36
NG_011618.3:g.228060_228063del , LRG_391:g.228060_228063del
NG_051363.1:g.89915_89918del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45298+42_45298+45del (TTN) ENSP00000343764.6:n.45298+42_45298+45del
ENST00000342175.11:c.26383+42_26383+45del (TTN) ENSP00000340554.6:n.26383+42_26383+45del
ENST00000359218.10:c.26182+42_26182+45del (TTN) ENSP00000352154.5:n.26182+42_26182+45del
ENST00000342175.10:c.26383+42_26383+45del (TTN) ENSP00000340554.6:n.26383+42_26383+45del
ENST00000342992.10:c.45298+42_45298+45del (TTN) ENSP00000343764.6:n.45298+42_45298+45del
ENST00000359218.9:c.26182+42_26182+45del (TTN) ENSP00000352154.5:n.26182+42_26182+45del
ENST00000460472.6:c.25807+42_25807+45del (TTN) ENSP00000434586.1:n.25807+42_25807+45del
ENST00000589042.5:c.53002+42_53002+45del (TTN) MANE Select ENSP00000467141.1:n.53002+42_53002+45del
ENST00000591111.5:c.48079+42_48079+45del (TTN) ENSP00000465570.1:n.48079+42_48079+45del
ENST00000615779.4:c.48079+42_48079+45del (TTN) ENSP00000483597.1:n.48079+42_48079+45del
NM_001256850.1:c.48079+42_48079+45del (TTN) NP_001243779.1:n.48079+42_48079+45del
NM_001267550.2:c.53002+42_53002+45del (TTN) MANE Select NP_001254479.2:n.53002+42_53002+45del
NM_003319.4:c.25807+42_25807+45del (TTN) NP_003310.4:n.25807+42_25807+45del
NM_133378.4:c.45298+42_45298+45del (TTN) NP_596869.4:n.45298+42_45298+45del
NM_133432.3:c.26182+42_26182+45del (TTN) NP_597676.3:n.26182+42_26182+45del
NM_133437.4:c.26383+42_26383+45del (TTN) NP_597681.4:n.26383+42_26383+45del
NR_038271.1:n.683-426_683-423del (TTN-AS1)
XM_011511729.1:c.52099+42_52099+45del (TTN) XP_011510031.1:n.52099+42_52099+45del
XM_011511730.1:c.25993+42_25993+45del (TTN) XP_011510032.1:n.25993+42_25993+45del
XM_011511731.1:c.25852+42_25852+45del (TTN) XP_011510033.1:n.25852+42_25852+45del
XM_017004819.1:c.51895+42_51895+45del (TTN) XP_016860308.1:n.51895+42_51895+45del
XM_017004820.1:c.47293+42_47293+45del (TTN) XP_016860309.1:n.47293+42_47293+45del
XM_017004821.1:c.47290+42_47290+45del (TTN) XP_016860310.1:n.47290+42_47290+45del
XM_017004822.1:c.44332+42_44332+45del (TTN) XP_016860311.1:n.44332+42_44332+45del
XM_017004823.1:c.25948+42_25948+45del (TTN) XP_016860312.1:n.25948+42_25948+45del
XM_024453094.1:c.47443+42_47443+45del (TTN) XP_024308862.1:n.47443+42_47443+45del
XM_024453095.1:c.47440+42_47440+45del (TTN) XP_024308863.1:n.47440+42_47440+45del
XM_024453096.1:c.46873+42_46873+45del (TTN) XP_024308864.1:n.46873+42_46873+45del
XM_024453097.1:c.44215+42_44215+45del (TTN) XP_024308865.1:n.44215+42_44215+45del
XM_024453098.1:c.44134+42_44134+45del (TTN) XP_024308866.1:n.44134+42_44134+45del
XM_024453099.1:c.25897+42_25897+45del (TTN) XP_024308867.1:n.25897+42_25897+45del
XM_024453100.1:c.15751+42_15751+45del (TTN) XP_024308868.1:n.15751+42_15751+45del