Canonical Allele Identifier: CA2586965286
Community Standard Title: NM_001267550.2(TTN):c.97417del (p.Arg32473ValfsTer19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542340del , CM000664.2:g.178542340del GRCh38
NC_000002.11:g.179407067del , CM000664.1:g.179407067del GRCh37
NC_000002.10:g.179115313del NCBI36
NG_011618.3:g.293464del , LRG_391:g.293464del
NG_051363.1:g.24514del

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97417del (TTN) MANE Select NP_001254479.2:p.Arg32473ValfsTer19
ENST00000589042.5:c.97417del (TTN) MANE Select ENSP00000467141.1:p.Arg32473ValfsTer19
NM_001256850.1:c.92494del (TTN) NP_001243779.1:p.Arg30832ValfsTer19
NM_003319.4:c.70222del (TTN) NP_003310.4:p.Arg23408ValfsTer19
NM_133378.4:c.89713del (TTN) NP_596869.4:p.Arg29905ValfsTer19
NM_133432.3:c.70597del (TTN) NP_597676.3:p.Arg23533ValfsTer19
NM_133437.4:c.70798del (TTN) NP_597681.4:p.Arg23600ValfsTer19
NR_038271.1:n.446+18704del (TTN-AS1)
NR_038272.1:n.2022del (TTN-AS1)
ENST00000342175.10:c.70798del (TTN) ENSP00000340554.6:p.Arg23600ValfsTer19
ENST00000342175.11:c.70798del (TTN) ENSP00000340554.6:p.Arg23600ValfsTer19
ENST00000342992.10:c.89713del (TTN) ENSP00000343764.6:p.Arg29905ValfsTer19
ENST00000342992.11:c.89713del (TTN) ENSP00000343764.6:p.Arg29905ValfsTer19
ENST00000359218.10:c.70597del (TTN) ENSP00000352154.5:p.Arg23533ValfsTer19
ENST00000359218.9:c.70597del (TTN) ENSP00000352154.5:p.Arg23533ValfsTer19
ENST00000460472.6:c.70222del (TTN) ENSP00000434586.1:p.Arg23408ValfsTer19
ENST00000591111.5:c.92494del (TTN) ENSP00000465570.1:p.Arg30832ValfsTer19
ENST00000615779.4:c.92494del (TTN) ENSP00000483597.1:p.Arg30832ValfsTer19
XM_011511729.1:c.96514del (TTN) XP_011510031.1:p.Arg32172ValfsTer19
XM_011511730.1:c.70408del (TTN) XP_011510032.1:p.Arg23470ValfsTer19
XM_011511731.1:c.70267del (TTN) XP_011510033.1:p.Arg23423ValfsTer19
XM_017004819.1:c.96310del (TTN) XP_016860308.1:p.Arg32104ValfsTer19
XM_017004820.1:c.91708del (TTN) XP_016860309.1:p.Arg30570ValfsTer19
XM_017004821.1:c.91705del (TTN) XP_016860310.1:p.Arg30569ValfsTer19
XM_017004822.1:c.88747del (TTN) XP_016860311.1:p.Arg29583ValfsTer19
XM_017004823.1:c.70363del (TTN) XP_016860312.1:p.Arg23455ValfsTer19
XM_024453094.1:c.91858del (TTN) XP_024308862.1:p.Arg30620ValfsTer19
XM_024453095.1:c.91855del (TTN) XP_024308863.1:p.Arg30619ValfsTer19
XM_024453096.1:c.91288del (TTN) XP_024308864.1:p.Arg30430ValfsTer19
XM_024453097.1:c.88630del (TTN) XP_024308865.1:p.Arg29544ValfsTer19
XM_024453098.1:c.88549del (TTN) XP_024308866.1:p.Arg29517ValfsTer19
XM_024453099.1:c.70312del (TTN) XP_024308867.1:p.Arg23438ValfsTer19
XM_024453100.1:c.60166del (TTN) XP_024308868.1:p.Arg20056ValfsTer19