Canonical Allele Identifier: CA351735

Linked Data

ClinVar Variation Id: 222879
ClinVar RCV Id: RCV000208049
dbSNP Id: rs869025559

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562342_178562343del , CM000664.2:g.178562342_178562343del GRCh38
NC_000002.11:g.179427069_179427070del , CM000664.1:g.179427069_179427070del GRCh37
NC_000002.10:g.179135315_179135316del NCBI36
NG_011618.3:g.273460_273461del , LRG_391:g.273460_273461del
NG_051363.1:g.44516_44517del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76085_76086del (TTN) ENSP00000343764.6:p.Glu25362GlyfsTer10
ENST00000342175.11:c.57170_57171del (TTN) ENSP00000340554.6:p.Glu19057GlyfsTer10
ENST00000359218.10:c.56969_56970del (TTN) ENSP00000352154.5:p.Glu18990GlyfsTer10
ENST00000342175.10:c.57170_57171del (TTN) ENSP00000340554.6:p.Glu19057GlyfsTer10
ENST00000342992.10:c.76085_76086del (TTN) ENSP00000343764.6:p.Glu25362GlyfsTer10
ENST00000359218.9:c.56969_56970del (TTN) ENSP00000352154.5:p.Glu18990GlyfsTer10
ENST00000460472.6:c.56594_56595del (TTN) ENSP00000434586.1:p.Glu18865GlyfsTer10
ENST00000589042.5:c.83789_83790del (TTN) MANE Select ENSP00000467141.1:p.Glu27930GlyfsTer10
ENST00000591111.5:c.78866_78867del (TTN) ENSP00000465570.1:p.Glu26289GlyfsTer10
ENST00000615779.4:c.78866_78867del (TTN) ENSP00000483597.1:p.Glu26289GlyfsTer10
NM_001256850.1:c.78866_78867del (TTN) NP_001243779.1:p.Glu26289GlyfsTer10
NM_001267550.2:c.83789_83790del (TTN) MANE Select NP_001254479.2:p.Glu27930GlyfsTer10
NM_003319.4:c.56594_56595del (TTN) NP_003310.4:p.Glu18865GlyfsTer10
NM_133378.4:c.76085_76086del (TTN) NP_596869.4:p.Glu25362GlyfsTer10
NM_133432.3:c.56969_56970del (TTN) NP_597676.3:p.Glu18990GlyfsTer10
NM_133437.4:c.57170_57171del (TTN) NP_597681.4:p.Glu19057GlyfsTer10
NR_038271.1:n.447-8958_447-8957del (TTN-AS1)
NR_038272.1:n.2043+19981_2043+19982del (TTN-AS1)
XM_011511729.1:c.82886_82887del (TTN) XP_011510031.1:p.Glu27629GlyfsTer10
XM_011511730.1:c.56780_56781del (TTN) XP_011510032.1:p.Glu18927GlyfsTer10
XM_011511731.1:c.56639_56640del (TTN) XP_011510033.1:p.Glu18880GlyfsTer10
XM_017004819.1:c.82682_82683del (TTN) XP_016860308.1:p.Glu27561GlyfsTer10
XM_017004820.1:c.78080_78081del (TTN) XP_016860309.1:p.Glu26027GlyfsTer10
XM_017004821.1:c.78077_78078del (TTN) XP_016860310.1:p.Glu26026GlyfsTer10
XM_017004822.1:c.75119_75120del (TTN) XP_016860311.1:p.Glu25040GlyfsTer10
XM_017004823.1:c.56735_56736del (TTN) XP_016860312.1:p.Glu18912GlyfsTer10
XM_024453094.1:c.78230_78231del (TTN) XP_024308862.1:p.Glu26077GlyfsTer10
XM_024453095.1:c.78227_78228del (TTN) XP_024308863.1:p.Glu26076GlyfsTer10
XM_024453096.1:c.77660_77661del (TTN) XP_024308864.1:p.Glu25887GlyfsTer10
XM_024453097.1:c.75002_75003del (TTN) XP_024308865.1:p.Glu25001GlyfsTer10
XM_024453098.1:c.74921_74922del (TTN) XP_024308866.1:p.Glu24974GlyfsTer10
XM_024453099.1:c.56684_56685del (TTN) XP_024308867.1:p.Glu18895GlyfsTer10
XM_024453100.1:c.46538_46539del (TTN) XP_024308868.1:p.Glu15513GlyfsTer10