Canonical Allele Identifier: CA16617355

Linked Data

ClinVar Variation Id: 419444
dbSNP Id: rs1064793876

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573173_178573180del , CM000664.2:g.178573173_178573180del GRCh38
NC_000002.11:g.179437900_179437907del , CM000664.1:g.179437900_179437907del GRCh37
NC_000002.10:g.179146146_179146153del NCBI36
NG_011618.3:g.262627_262634del , LRG_391:g.262627_262634del
NG_051363.1:g.55347_55354del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.65252_65259del (TTN) ENSP00000343764.6:p.Asp21751ValfsTer2
ENST00000342175.11:c.46337_46344del (TTN) ENSP00000340554.6:p.Asp15446ValfsTer2
ENST00000359218.10:c.46136_46143del (TTN) ENSP00000352154.5:p.Asp15379ValfsTer2
ENST00000342175.10:c.46337_46344del (TTN) ENSP00000340554.6:p.Asp15446ValfsTer2
ENST00000342992.10:c.65252_65259del (TTN) ENSP00000343764.6:p.Asp21751ValfsTer2
ENST00000359218.9:c.46136_46143del (TTN) ENSP00000352154.5:p.Asp15379ValfsTer2
ENST00000460472.6:c.45761_45768del (TTN) ENSP00000434586.1:p.Asp15254ValfsTer2
ENST00000589042.5:c.72956_72963del (TTN) MANE Select ENSP00000467141.1:p.Asp24319ValfsTer2
ENST00000591111.5:c.68033_68040del (TTN) ENSP00000465570.1:p.Asp22678ValfsTer2
ENST00000615779.4:c.68033_68040del (TTN) ENSP00000483597.1:p.Asp22678ValfsTer2
NM_001256850.1:c.68033_68040del (TTN) NP_001243779.1:p.Asp22678ValfsTer2
NM_001267550.2:c.72956_72963del (TTN) MANE Select NP_001254479.2:p.Asp24319ValfsTer2
NM_003319.4:c.45761_45768del (TTN) NP_003310.4:p.Asp15254ValfsTer2
NM_133378.4:c.65252_65259del (TTN) NP_596869.4:p.Asp21751ValfsTer2
NM_133432.3:c.46136_46143del (TTN) NP_597676.3:p.Asp15379ValfsTer2
NM_133437.4:c.46337_46344del (TTN) NP_597681.4:p.Asp15446ValfsTer2
NR_038271.1:n.596+1724_596+1731del (TTN-AS1)
NR_038272.1:n.2044-9399_2044-9392del (TTN-AS1)
XM_011511729.1:c.72053_72060del (TTN) XP_011510031.1:p.Asp24018ValfsTer2
XM_011511730.1:c.45947_45954del (TTN) XP_011510032.1:p.Asp15316ValfsTer2
XM_011511731.1:c.45806_45813del (TTN) XP_011510033.1:p.Asp15269ValfsTer2
XM_017004819.1:c.71849_71856del (TTN) XP_016860308.1:p.Asp23950ValfsTer2
XM_017004820.1:c.67247_67254del (TTN) XP_016860309.1:p.Asp22416ValfsTer2
XM_017004821.1:c.67244_67251del (TTN) XP_016860310.1:p.Asp22415ValfsTer2
XM_017004822.1:c.64286_64293del (TTN) XP_016860311.1:p.Asp21429ValfsTer2
XM_017004823.1:c.45902_45909del (TTN) XP_016860312.1:p.Asp15301ValfsTer2
XM_024453094.1:c.67397_67404del (TTN) XP_024308862.1:p.Asp22466ValfsTer2
XM_024453095.1:c.67394_67401del (TTN) XP_024308863.1:p.Asp22465ValfsTer2
XM_024453096.1:c.66827_66834del (TTN) XP_024308864.1:p.Asp22276ValfsTer2
XM_024453097.1:c.64169_64176del (TTN) XP_024308865.1:p.Asp21390ValfsTer2
XM_024453098.1:c.64088_64095del (TTN) XP_024308866.1:p.Asp21363ValfsTer2
XM_024453099.1:c.45851_45858del (TTN) XP_024308867.1:p.Asp15284ValfsTer2
XM_024453100.1:c.35705_35712del (TTN) XP_024308868.1:p.Asp11902ValfsTer2