Canonical Allele Identifier: CA1310515553

Linked Data

dbSNP Id: rs1692208187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537615del , CM000664.2:g.178537615del GRCh38
NC_000002.11:g.179402342del , CM000664.1:g.179402342del GRCh37
NC_000002.10:g.179110588del NCBI36
NG_011618.3:g.298189del , LRG_391:g.298189del
NG_051363.1:g.19789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91889del (TTN) ENSP00000343764.6:p.Pro30630LeufsTer5
ENST00000342175.11:c.72974del (TTN) ENSP00000340554.6:p.Pro24325LeufsTer5
ENST00000359218.10:c.72773del (TTN) ENSP00000352154.5:p.Pro24258LeufsTer5
ENST00000342175.10:c.72974del (TTN) ENSP00000340554.6:p.Pro24325LeufsTer5
ENST00000342992.10:c.91889del (TTN) ENSP00000343764.6:p.Pro30630LeufsTer5
ENST00000359218.9:c.72773del (TTN) ENSP00000352154.5:p.Pro24258LeufsTer5
ENST00000460472.6:c.72398del (TTN) ENSP00000434586.1:p.Pro24133LeufsTer5
ENST00000589042.5:c.99593del (TTN) MANE Select ENSP00000467141.1:p.Pro33198LeufsTer5
ENST00000591111.5:c.94670del (TTN) ENSP00000465570.1:p.Pro31557LeufsTer5
ENST00000615779.4:c.94670del (TTN) ENSP00000483597.1:p.Pro31557LeufsTer5
NM_001256850.1:c.94670del (TTN) NP_001243779.1:p.Pro31557LeufsTer5
NM_001267550.2:c.99593del (TTN) MANE Select NP_001254479.2:p.Pro33198LeufsTer5
NM_003319.4:c.72398del (TTN) NP_003310.4:p.Pro24133LeufsTer5
NM_133378.4:c.91889del (TTN) NP_596869.4:p.Pro30630LeufsTer5
NM_133432.3:c.72773del (TTN) NP_597676.3:p.Pro24258LeufsTer5
NM_133437.4:c.72974del (TTN) NP_597681.4:p.Pro24325LeufsTer5
NR_038271.1:n.446+13979del (TTN-AS1)
NR_038272.1:n.571del (TTN-AS1)
XM_011511729.1:c.98690del (TTN) XP_011510031.1:p.Pro32897LeufsTer5
XM_011511730.1:c.72584del (TTN) XP_011510032.1:p.Pro24195LeufsTer5
XM_011511731.1:c.72443del (TTN) XP_011510033.1:p.Pro24148LeufsTer5
XM_017004819.1:c.98486del (TTN) XP_016860308.1:p.Pro32829LeufsTer5
XM_017004820.1:c.93884del (TTN) XP_016860309.1:p.Pro31295LeufsTer5
XM_017004821.1:c.93881del (TTN) XP_016860310.1:p.Pro31294LeufsTer5
XM_017004822.1:c.90923del (TTN) XP_016860311.1:p.Pro30308LeufsTer5
XM_017004823.1:c.72539del (TTN) XP_016860312.1:p.Pro24180LeufsTer5
XM_024453094.1:c.94034del (TTN) XP_024308862.1:p.Pro31345LeufsTer5
XM_024453095.1:c.94031del (TTN) XP_024308863.1:p.Pro31344LeufsTer5
XM_024453096.1:c.93464del (TTN) XP_024308864.1:p.Pro31155LeufsTer5
XM_024453097.1:c.90806del (TTN) XP_024308865.1:p.Pro30269LeufsTer5
XM_024453098.1:c.90725del (TTN) XP_024308866.1:p.Pro30242LeufsTer5
XM_024453099.1:c.72488del (TTN) XP_024308867.1:p.Pro24163LeufsTer5
XM_024453100.1:c.62342del (TTN) XP_024308868.1:p.Pro20781LeufsTer5