Canonical Allele Identifier: CA16610325

Linked Data

ClinVar Variation Id: 404967
dbSNP Id: rs1060500514

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574891del , CM000664.2:g.178574891del GRCh38
NC_000002.11:g.179439618del , CM000664.1:g.179439618del GRCh37
NC_000002.10:g.179147864del NCBI36
NG_011618.3:g.260913del , LRG_391:g.260913del
NG_051363.1:g.57065del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63538del (TTN) ENSP00000343764.6:p.Trp21180GlyfsTer12
ENST00000342175.11:c.44623del (TTN) ENSP00000340554.6:p.Trp14875GlyfsTer12
ENST00000359218.10:c.44422del (TTN) ENSP00000352154.5:p.Trp14808GlyfsTer12
ENST00000342175.10:c.44623del (TTN) ENSP00000340554.6:p.Trp14875GlyfsTer12
ENST00000342992.10:c.63538del (TTN) ENSP00000343764.6:p.Trp21180GlyfsTer12
ENST00000359218.9:c.44422del (TTN) ENSP00000352154.5:p.Trp14808GlyfsTer12
ENST00000460472.6:c.44047del (TTN) ENSP00000434586.1:p.Trp14683GlyfsTer12
ENST00000589042.5:c.71242del (TTN) MANE Select ENSP00000467141.1:p.Trp23748GlyfsTer12
ENST00000591111.5:c.66319del (TTN) ENSP00000465570.1:p.Trp22107GlyfsTer12
ENST00000615779.4:c.66319del (TTN) ENSP00000483597.1:p.Trp22107GlyfsTer12
NM_001256850.1:c.66319del (TTN) NP_001243779.1:p.Trp22107GlyfsTer12
NM_001267550.2:c.71242del (TTN) MANE Select NP_001254479.2:p.Trp23748GlyfsTer12
NM_003319.4:c.44047del (TTN) NP_003310.4:p.Trp14683GlyfsTer12
NM_133378.4:c.63538del (TTN) NP_596869.4:p.Trp21180GlyfsTer12
NM_133432.3:c.44422del (TTN) NP_597676.3:p.Trp14808GlyfsTer12
NM_133437.4:c.44623del (TTN) NP_597681.4:p.Trp14875GlyfsTer12
NR_038271.1:n.596+3442del (TTN-AS1)
NR_038272.1:n.2044-7681del (TTN-AS1)
XM_011511729.1:c.70339del (TTN) XP_011510031.1:p.Trp23447GlyfsTer12
XM_011511730.1:c.44233del (TTN) XP_011510032.1:p.Trp14745GlyfsTer12
XM_011511731.1:c.44092del (TTN) XP_011510033.1:p.Trp14698GlyfsTer12
XM_017004819.1:c.70135del (TTN) XP_016860308.1:p.Trp23379GlyfsTer12
XM_017004820.1:c.65533del (TTN) XP_016860309.1:p.Trp21845GlyfsTer12
XM_017004821.1:c.65530del (TTN) XP_016860310.1:p.Trp21844GlyfsTer12
XM_017004822.1:c.62572del (TTN) XP_016860311.1:p.Trp20858GlyfsTer12
XM_017004823.1:c.44188del (TTN) XP_016860312.1:p.Trp14730GlyfsTer12
XM_024453094.1:c.65683del (TTN) XP_024308862.1:p.Trp21895GlyfsTer12
XM_024453095.1:c.65680del (TTN) XP_024308863.1:p.Trp21894GlyfsTer12
XM_024453096.1:c.65113del (TTN) XP_024308864.1:p.Trp21705GlyfsTer12
XM_024453097.1:c.62455del (TTN) XP_024308865.1:p.Trp20819GlyfsTer12
XM_024453098.1:c.62374del (TTN) XP_024308866.1:p.Trp20792GlyfsTer12
XM_024453099.1:c.44137del (TTN) XP_024308867.1:p.Trp14713GlyfsTer12
XM_024453100.1:c.33991del (TTN) XP_024308868.1:p.Trp11331GlyfsTer12