Canonical Allele Identifier: CA341218

Linked Data

ClinVar Variation Id: 12661
ClinVar RCV Id: RCV000013497
dbSNP Id: rs199469665

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531084_178531091del , CM000664.2:g.178531084_178531091del GRCh38
NC_000002.11:g.179395811_179395818del , CM000664.1:g.179395811_179395818del GRCh37
NC_000002.10:g.179104057_179104064del NCBI36
NG_011618.3:g.304716_304723del , LRG_391:g.304716_304723del
NG_051363.1:g.13258_13265del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97824_97831del (TTN) ENSP00000343764.6:p.Gln32608HisfsTer9
ENST00000342175.11:c.78909_78916del (TTN) ENSP00000340554.6:p.Gln26303HisfsTer9
ENST00000359218.10:c.78708_78715del (TTN) ENSP00000352154.5:p.Gln26236HisfsTer9
ENST00000342175.10:c.78909_78916del (TTN) ENSP00000340554.6:p.Gln26303HisfsTer9
ENST00000342992.10:c.97824_97831del (TTN) ENSP00000343764.6:p.Gln32608HisfsTer9
ENST00000359218.9:c.78708_78715del (TTN) ENSP00000352154.5:p.Gln26236HisfsTer9
ENST00000460472.6:c.78333_78340del (TTN) ENSP00000434586.1:p.Gln26111HisfsTer9
ENST00000589042.5:c.105528_105535del (TTN) MANE Select ENSP00000467141.1:p.Gln35176HisfsTer9
ENST00000591111.5:c.100605_100612del (TTN) ENSP00000465570.1:p.Gln33535HisfsTer9
ENST00000615779.4:c.100605_100612del (TTN) ENSP00000483597.1:p.Gln33535HisfsTer9
NM_001256850.1:c.100605_100612del (TTN) NP_001243779.1:p.Gln33535HisfsTer9
NM_001267550.2:c.105528_105535del (TTN) MANE Select NP_001254479.2:p.Gln35176HisfsTer9
NM_003319.4:c.78333_78340del (TTN) NP_003310.4:p.Gln26111HisfsTer9
NM_133378.4:c.97824_97831del (TTN) NP_596869.4:p.Gln32608HisfsTer9
NM_133432.3:c.78708_78715del (TTN) NP_597676.3:p.Gln26236HisfsTer9
NM_133437.4:c.78909_78916del (TTN) NP_597681.4:p.Gln26303HisfsTer9
NR_038271.1:n.446+7448_446+7455del (TTN-AS1)
NR_038272.1:n.220-4648_220-4641del (TTN-AS1)
XM_011511729.1:c.104625_104632del (TTN) XP_011510031.1:p.Gln34875HisfsTer9
XM_011511730.1:c.78519_78526del (TTN) XP_011510032.1:p.Gln26173HisfsTer9
XM_011511731.1:c.78378_78385del (TTN) XP_011510033.1:p.Gln26126HisfsTer9
XM_017004819.1:c.104421_104428del (TTN) XP_016860308.1:p.Gln34807HisfsTer9
XM_017004820.1:c.99819_99826del (TTN) XP_016860309.1:p.Gln33273HisfsTer9
XM_017004821.1:c.99816_99823del (TTN) XP_016860310.1:p.Gln33272HisfsTer9
XM_017004822.1:c.96858_96865del (TTN) XP_016860311.1:p.Gln32286HisfsTer9
XM_017004823.1:c.78474_78481del (TTN) XP_016860312.1:p.Gln26158HisfsTer9
XM_024453094.1:c.99969_99976del (TTN) XP_024308862.1:p.Gln33323HisfsTer9
XM_024453095.1:c.99966_99973del (TTN) XP_024308863.1:p.Gln33322HisfsTer9
XM_024453096.1:c.99399_99406del (TTN) XP_024308864.1:p.Gln33133HisfsTer9
XM_024453097.1:c.96741_96748del (TTN) XP_024308865.1:p.Gln32247HisfsTer9
XM_024453098.1:c.96660_96667del (TTN) XP_024308866.1:p.Gln32220HisfsTer9
XM_024453099.1:c.78423_78430del (TTN) XP_024308867.1:p.Gln26141HisfsTer9
XM_024453100.1:c.68277_68284del (TTN) XP_024308868.1:p.Gln22759HisfsTer9