Canonical Allele Identifier: CA1310537558

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586617_178586620delinsGACA , CM000664.2:g.178586617_178586620delinsGACA GRCh38
NC_000002.11:g.179451344_179451347delinsGACA , CM000664.1:g.179451344_179451347delinsGACA GRCh37
NC_000002.10:g.179159590_179159593delinsGACA NCBI36
NG_011618.3:g.249183_249186delinsTGTC , LRG_391:g.249183_249186delinsTGTC
NG_051363.1:g.68791_68794delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.56577_56580delinsTGTC (TTN) ENSP00000343764.6:p.Val18859=
ENST00000342175.11:c.37662_37665delinsTGTC (TTN) ENSP00000340554.6:p.Val12554=
ENST00000359218.10:c.37461_37464delinsTGTC (TTN) ENSP00000352154.5:p.Val12487=
ENST00000342175.10:c.37662_37665delinsTGTC (TTN) ENSP00000340554.6:p.Val12554=
ENST00000342992.10:c.56577_56580delinsTGTC (TTN) ENSP00000343764.6:p.Val18859=
ENST00000359218.9:c.37461_37464delinsTGTC (TTN) ENSP00000352154.5:p.Val12487=
ENST00000460472.6:c.37086_37089delinsTGTC (TTN) ENSP00000434586.1:p.Val12362=
ENST00000589042.5:c.64281_64284delinsTGTC (TTN) MANE Select ENSP00000467141.1:p.Val21427=
ENST00000591111.5:c.59358_59361delinsTGTC (TTN) ENSP00000465570.1:p.Val19786=
ENST00000615779.4:c.59358_59361delinsTGTC (TTN) ENSP00000483597.1:p.Val19786=
NM_001256850.1:c.59358_59361delinsTGTC (TTN) NP_001243779.1:p.Val19786=
NM_001267550.2:c.64281_64284delinsTGTC (TTN) MANE Select NP_001254479.2:p.Val21427=
NM_003319.4:c.37086_37089delinsTGTC (TTN) NP_003310.4:p.Val12362=
NM_133378.4:c.56577_56580delinsTGTC (TTN) NP_596869.4:p.Val18859=
NM_133432.3:c.37461_37464delinsTGTC (TTN) NP_597676.3:p.Val12487=
NM_133437.4:c.37662_37665delinsTGTC (TTN) NP_597681.4:p.Val12554=
NR_038271.1:n.597-10979_597-10976delinsGACA (TTN-AS1)
NR_038272.1:n.3188+1624_3188+1627delinsGACA (TTN-AS1)
XM_011511729.1:c.63378_63381delinsTGTC (TTN) XP_011510031.1:p.Val21126=
XM_011511730.1:c.37272_37275delinsTGTC (TTN) XP_011510032.1:p.Val12424=
XM_011511731.1:c.37131_37134delinsTGTC (TTN) XP_011510033.1:p.Val12377=
XM_017004819.1:c.63174_63177delinsTGTC (TTN) XP_016860308.1:p.Val21058=
XM_017004820.1:c.58572_58575delinsTGTC (TTN) XP_016860309.1:p.Val19524=
XM_017004821.1:c.58569_58572delinsTGTC (TTN) XP_016860310.1:p.Val19523=
XM_017004822.1:c.55611_55614delinsTGTC (TTN) XP_016860311.1:p.Val18537=
XM_017004823.1:c.37227_37230delinsTGTC (TTN) XP_016860312.1:p.Val12409=
XM_024453094.1:c.58722_58725delinsTGTC (TTN) XP_024308862.1:p.Val19574=
XM_024453095.1:c.58719_58722delinsTGTC (TTN) XP_024308863.1:p.Val19573=
XM_024453096.1:c.58152_58155delinsTGTC (TTN) XP_024308864.1:p.Val19384=
XM_024453097.1:c.55494_55497delinsTGTC (TTN) XP_024308865.1:p.Val18498=
XM_024453098.1:c.55413_55416delinsTGTC (TTN) XP_024308866.1:p.Val18471=
XM_024453099.1:c.37176_37179delinsTGTC (TTN) XP_024308867.1:p.Val12392=
XM_024453100.1:c.27030_27033delinsTGTC (TTN) XP_024308868.1:p.Val9010=