Canonical Allele Identifier: CA16617353

Linked Data

ClinVar Variation Id: 423379
dbSNP Id: rs1064796390

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178571756_178571764delinsCTTA , CM000664.2:g.178571756_178571764delinsCTTA GRCh38
NC_000002.11:g.179436483_179436491delinsCTTA , CM000664.1:g.179436483_179436491delinsCTTA GRCh37
NC_000002.10:g.179144729_179144737delinsCTTA NCBI36
NG_011618.3:g.264039_264047delinsTAAG , LRG_391:g.264039_264047delinsTAAG
NG_051363.1:g.53930_53938delinsCTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.66664_66672delinsTAAG (TTN) ENSP00000343764.6:p.Leu22222Ter
ENST00000342175.11:c.47749_47757delinsTAAG (TTN) ENSP00000340554.6:p.Leu15917Ter
ENST00000359218.10:c.47548_47556delinsTAAG (TTN) ENSP00000352154.5:p.Leu15850Ter
ENST00000342175.10:c.47749_47757delinsTAAG (TTN) ENSP00000340554.6:p.Leu15917Ter
ENST00000342992.10:c.66664_66672delinsTAAG (TTN) ENSP00000343764.6:p.Leu22222Ter
ENST00000359218.9:c.47548_47556delinsTAAG (TTN) ENSP00000352154.5:p.Leu15850Ter
ENST00000460472.6:c.47173_47181delinsTAAG (TTN) ENSP00000434586.1:p.Leu15725Ter
ENST00000589042.5:c.74368_74376delinsTAAG (TTN) MANE Select ENSP00000467141.1:p.Leu24790Ter
ENST00000591111.5:c.69445_69453delinsTAAG (TTN) ENSP00000465570.1:p.Leu23149Ter
ENST00000615779.4:c.69445_69453delinsTAAG (TTN) ENSP00000483597.1:p.Leu23149Ter
NM_001256850.1:c.69445_69453delinsTAAG (TTN) NP_001243779.1:p.Leu23149Ter
NM_001267550.2:c.74368_74376delinsTAAG (TTN) MANE Select NP_001254479.2:p.Leu24790Ter
NM_003319.4:c.47173_47181delinsTAAG (TTN) NP_003310.4:p.Leu15725Ter
NM_133378.4:c.66664_66672delinsTAAG (TTN) NP_596869.4:p.Leu22222Ter
NM_133432.3:c.47548_47556delinsTAAG (TTN) NP_597676.3:p.Leu15850Ter
NM_133437.4:c.47749_47757delinsTAAG (TTN) NP_597681.4:p.Leu15917Ter
NR_038271.1:n.596+307_596+315delinsCTTA (TTN-AS1)
NR_038272.1:n.2044-10816_2044-10808delinsCTTA (TTN-AS1)
XM_011511729.1:c.73465_73473delinsTAAG (TTN) XP_011510031.1:p.Leu24489Ter
XM_011511730.1:c.47359_47367delinsTAAG (TTN) XP_011510032.1:p.Leu15787Ter
XM_011511731.1:c.47218_47226delinsTAAG (TTN) XP_011510033.1:p.Leu15740Ter
XM_017004819.1:c.73261_73269delinsTAAG (TTN) XP_016860308.1:p.Leu24421Ter
XM_017004820.1:c.68659_68667delinsTAAG (TTN) XP_016860309.1:p.Leu22887Ter
XM_017004821.1:c.68656_68664delinsTAAG (TTN) XP_016860310.1:p.Leu22886Ter
XM_017004822.1:c.65698_65706delinsTAAG (TTN) XP_016860311.1:p.Leu21900Ter
XM_017004823.1:c.47314_47322delinsTAAG (TTN) XP_016860312.1:p.Leu15772Ter
XM_024453094.1:c.68809_68817delinsTAAG (TTN) XP_024308862.1:p.Leu22937Ter
XM_024453095.1:c.68806_68814delinsTAAG (TTN) XP_024308863.1:p.Leu22936Ter
XM_024453096.1:c.68239_68247delinsTAAG (TTN) XP_024308864.1:p.Leu22747Ter
XM_024453097.1:c.65581_65589delinsTAAG (TTN) XP_024308865.1:p.Leu21861Ter
XM_024453098.1:c.65500_65508delinsTAAG (TTN) XP_024308866.1:p.Leu21834Ter
XM_024453099.1:c.47263_47271delinsTAAG (TTN) XP_024308867.1:p.Leu15755Ter
XM_024453100.1:c.37117_37125delinsTAAG (TTN) XP_024308868.1:p.Leu12373Ter