Canonical Allele Identifier: CA16617340

Linked Data

ClinVar Variation Id: 420867
ClinVar RCV Id: RCV000483272
dbSNP Id: rs1064794754

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559506del , CM000664.2:g.178559506del GRCh38
NC_000002.11:g.179424233del , CM000664.1:g.179424233del GRCh37
NC_000002.10:g.179132479del NCBI36
NG_011618.3:g.276298del , LRG_391:g.276298del
NG_051363.1:g.41680del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78923del (TTN) ENSP00000343764.6:p.Pro26308GlnfsTer2
ENST00000342175.11:c.60008del (TTN) ENSP00000340554.6:p.Pro20003GlnfsTer2
ENST00000359218.10:c.59807del (TTN) ENSP00000352154.5:p.Pro19936GlnfsTer2
ENST00000342175.10:c.60008del (TTN) ENSP00000340554.6:p.Pro20003GlnfsTer2
ENST00000342992.10:c.78923del (TTN) ENSP00000343764.6:p.Pro26308GlnfsTer2
ENST00000359218.9:c.59807del (TTN) ENSP00000352154.5:p.Pro19936GlnfsTer2
ENST00000460472.6:c.59432del (TTN) ENSP00000434586.1:p.Pro19811GlnfsTer2
ENST00000589042.5:c.86627del (TTN) MANE Select ENSP00000467141.1:p.Pro28876GlnfsTer2
ENST00000591111.5:c.81704del (TTN) ENSP00000465570.1:p.Pro27235GlnfsTer2
ENST00000615779.4:c.81704del (TTN) ENSP00000483597.1:p.Pro27235GlnfsTer2
NM_001256850.1:c.81704del (TTN) NP_001243779.1:p.Pro27235GlnfsTer2
NM_001267550.2:c.86627del (TTN) MANE Select NP_001254479.2:p.Pro28876GlnfsTer2
NM_003319.4:c.59432del (TTN) NP_003310.4:p.Pro19811GlnfsTer2
NM_133378.4:c.78923del (TTN) NP_596869.4:p.Pro26308GlnfsTer2
NM_133432.3:c.59807del (TTN) NP_597676.3:p.Pro19936GlnfsTer2
NM_133437.4:c.60008del (TTN) NP_597681.4:p.Pro20003GlnfsTer2
NR_038271.1:n.447-11794del (TTN-AS1)
NR_038272.1:n.2043+17145del (TTN-AS1)
XM_011511729.1:c.85724del (TTN) XP_011510031.1:p.Pro28575GlnfsTer2
XM_011511730.1:c.59618del (TTN) XP_011510032.1:p.Pro19873GlnfsTer2
XM_011511731.1:c.59477del (TTN) XP_011510033.1:p.Pro19826GlnfsTer2
XM_017004819.1:c.85520del (TTN) XP_016860308.1:p.Pro28507GlnfsTer2
XM_017004820.1:c.80918del (TTN) XP_016860309.1:p.Pro26973GlnfsTer2
XM_017004821.1:c.80915del (TTN) XP_016860310.1:p.Pro26972GlnfsTer2
XM_017004822.1:c.77957del (TTN) XP_016860311.1:p.Pro25986GlnfsTer2
XM_017004823.1:c.59573del (TTN) XP_016860312.1:p.Pro19858GlnfsTer2
XM_024453094.1:c.81068del (TTN) XP_024308862.1:p.Pro27023GlnfsTer2
XM_024453095.1:c.81065del (TTN) XP_024308863.1:p.Pro27022GlnfsTer2
XM_024453096.1:c.80498del (TTN) XP_024308864.1:p.Pro26833GlnfsTer2
XM_024453097.1:c.77840del (TTN) XP_024308865.1:p.Pro25947GlnfsTer2
XM_024453098.1:c.77759del (TTN) XP_024308866.1:p.Pro25920GlnfsTer2
XM_024453099.1:c.59522del (TTN) XP_024308867.1:p.Pro19841GlnfsTer2
XM_024453100.1:c.49376del (TTN) XP_024308868.1:p.Pro16459GlnfsTer2