Canonical Allele Identifier: CA2586970736

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530406dup , CM000664.2:g.178530406dup GRCh38
NC_000002.11:g.179395133dup , CM000664.1:g.179395133dup GRCh37
NC_000002.10:g.179103379dup NCBI36
NG_011618.3:g.305397dup , LRG_391:g.305397dup
NG_051363.1:g.12580dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98505dup (TTN) ENSP00000343764.6:p.Val32836SerfsTer6
ENST00000342175.11:c.79590dup (TTN) ENSP00000340554.6:p.Val26531SerfsTer6
ENST00000359218.10:c.79389dup (TTN) ENSP00000352154.5:p.Val26464SerfsTer6
ENST00000342175.10:c.79590dup (TTN) ENSP00000340554.6:p.Val26531SerfsTer6
ENST00000342992.10:c.98505dup (TTN) ENSP00000343764.6:p.Val32836SerfsTer6
ENST00000359218.9:c.79389dup (TTN) ENSP00000352154.5:p.Val26464SerfsTer6
ENST00000460472.6:c.79014dup (TTN) ENSP00000434586.1:p.Val26339SerfsTer6
ENST00000589042.5:c.106209dup (TTN) MANE Select ENSP00000467141.1:p.Val35404SerfsTer6
ENST00000591111.5:c.101286dup (TTN) ENSP00000465570.1:p.Val33763SerfsTer6
ENST00000615779.4:c.101286dup (TTN) ENSP00000483597.1:p.Val33763SerfsTer6
NM_001256850.1:c.101286dup (TTN) NP_001243779.1:p.Val33763SerfsTer6
NM_001267550.2:c.106209dup (TTN) MANE Select NP_001254479.2:p.Val35404SerfsTer6
NM_003319.4:c.79014dup (TTN) NP_003310.4:p.Val26339SerfsTer6
NM_133378.4:c.98505dup (TTN) NP_596869.4:p.Val32836SerfsTer6
NM_133432.3:c.79389dup (TTN) NP_597676.3:p.Val26464SerfsTer6
NM_133437.4:c.79590dup (TTN) NP_597681.4:p.Val26531SerfsTer6
NR_038271.1:n.446+6770dup (TTN-AS1)
NR_038272.1:n.220-5326dup (TTN-AS1)
XM_011511729.1:c.105306dup (TTN) XP_011510031.1:p.Val35103SerfsTer6
XM_011511730.1:c.79200dup (TTN) XP_011510032.1:p.Val26401SerfsTer6
XM_011511731.1:c.79059dup (TTN) XP_011510033.1:p.Val26354SerfsTer6
XM_017004819.1:c.105102dup (TTN) XP_016860308.1:p.Val35035SerfsTer6
XM_017004820.1:c.100500dup (TTN) XP_016860309.1:p.Val33501SerfsTer6
XM_017004821.1:c.100497dup (TTN) XP_016860310.1:p.Val33500SerfsTer6
XM_017004822.1:c.97539dup (TTN) XP_016860311.1:p.Val32514SerfsTer6
XM_017004823.1:c.79155dup (TTN) XP_016860312.1:p.Val26386SerfsTer6
XM_024453094.1:c.100650dup (TTN) XP_024308862.1:p.Val33551SerfsTer6
XM_024453095.1:c.100647dup (TTN) XP_024308863.1:p.Val33550SerfsTer6
XM_024453096.1:c.100080dup (TTN) XP_024308864.1:p.Val33361SerfsTer6
XM_024453097.1:c.97422dup (TTN) XP_024308865.1:p.Val32475SerfsTer6
XM_024453098.1:c.97341dup (TTN) XP_024308866.1:p.Val32448SerfsTer6
XM_024453099.1:c.79104dup (TTN) XP_024308867.1:p.Val26369SerfsTer6
XM_024453100.1:c.68958dup (TTN) XP_024308868.1:p.Val22987SerfsTer6