Canonical Allele Identifier: CA2533111184

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613951_178613953del , CM000664.2:g.178613951_178613953del GRCh38
NC_000002.11:g.179478678_179478680del , CM000664.1:g.179478678_179478680del GRCh37
NC_000002.10:g.179186923_179186925del NCBI36
NG_011618.3:g.221852_221854del , LRG_391:g.221852_221854del
NG_051363.1:g.96125_96127del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41642-14_41642-12del (TTN) ENSP00000343764.6:n.41642-14_41642-12del
ENST00000342175.11:c.22727-14_22727-12del (TTN) ENSP00000340554.6:n.22727-14_22727-12del
ENST00000359218.10:c.22526-14_22526-12del (TTN) ENSP00000352154.5:n.22526-14_22526-12del
ENST00000342175.10:c.22727-14_22727-12del (TTN) ENSP00000340554.6:n.22727-14_22727-12del
ENST00000342992.10:c.41642-14_41642-12del (TTN) ENSP00000343764.6:n.41642-14_41642-12del
ENST00000359218.9:c.22526-14_22526-12del (TTN) ENSP00000352154.5:n.22526-14_22526-12del
ENST00000460472.6:c.22151-14_22151-12del (TTN) ENSP00000434586.1:n.22151-14_22151-12del
ENST00000589042.5:c.49346-14_49346-12del (TTN) MANE Select ENSP00000467141.1:n.49346-14_49346-12del
ENST00000591111.5:c.44423-14_44423-12del (TTN) ENSP00000465570.1:n.44423-14_44423-12del
ENST00000615779.4:c.44423-14_44423-12del (TTN) ENSP00000483597.1:n.44423-14_44423-12del
NM_001256850.1:c.44423-14_44423-12del (TTN) NP_001243779.1:n.44423-14_44423-12del
NM_001267550.2:c.49346-14_49346-12del (TTN) MANE Select NP_001254479.2:n.49346-14_49346-12del
NM_003319.4:c.22151-14_22151-12del (TTN) NP_003310.4:n.22151-14_22151-12del
NM_133378.4:c.41642-14_41642-12del (TTN) NP_596869.4:n.41642-14_41642-12del
NM_133432.3:c.22526-14_22526-12del (TTN) NP_597676.3:n.22526-14_22526-12del
NM_133437.4:c.22727-14_22727-12del (TTN) NP_597681.4:n.22727-14_22727-12del
NR_038271.1:n.783-84_783-82del (TTN-AS1)
XM_011511729.1:c.48443-14_48443-12del (TTN) XP_011510031.1:n.48443-14_48443-12del
XM_011511730.1:c.22337-14_22337-12del (TTN) XP_011510032.1:n.22337-14_22337-12del
XM_011511731.1:c.22196-14_22196-12del (TTN) XP_011510033.1:n.22196-14_22196-12del
XM_017004819.1:c.48239-14_48239-12del (TTN) XP_016860308.1:n.48239-14_48239-12del
XM_017004820.1:c.43637-14_43637-12del (TTN) XP_016860309.1:n.43637-14_43637-12del
XM_017004821.1:c.43634-14_43634-12del (TTN) XP_016860310.1:n.43634-14_43634-12del
XM_017004822.1:c.40676-14_40676-12del (TTN) XP_016860311.1:n.40676-14_40676-12del
XM_017004823.1:c.22292-14_22292-12del (TTN) XP_016860312.1:n.22292-14_22292-12del
XM_024453094.1:c.43787-14_43787-12del (TTN) XP_024308862.1:n.43787-14_43787-12del
XM_024453095.1:c.43784-14_43784-12del (TTN) XP_024308863.1:n.43784-14_43784-12del
XM_024453096.1:c.43217-14_43217-12del (TTN) XP_024308864.1:n.43217-14_43217-12del
XM_024453097.1:c.40559-14_40559-12del (TTN) XP_024308865.1:n.40559-14_40559-12del
XM_024453098.1:c.40478-14_40478-12del (TTN) XP_024308866.1:n.40478-14_40478-12del
XM_024453099.1:c.22241-14_22241-12del (TTN) XP_024308867.1:n.22241-14_22241-12del
XM_024453100.1:c.12095-14_12095-12del (TTN) XP_024308868.1:n.12095-14_12095-12del