Canonical Allele Identifier: CA2573051754

Linked Data

dbSNP Id: rs2154136912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535797_178535798insG , CM000664.2:g.178535797_178535798insG GRCh38
NC_000002.11:g.179400524_179400525insG , CM000664.1:g.179400524_179400525insG GRCh37
NC_000002.10:g.179108770_179108771insG NCBI36
NG_011618.3:g.300005_300006insC , LRG_391:g.300005_300006insC
NG_051363.1:g.17971_17972insG

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.93113_93114insC (TTN) ENSP00000343764.6:p.Ala31039CysfsTer5
ENST00000342175.11:c.74198_74199insC (TTN) ENSP00000340554.6:p.Ala24734CysfsTer5
ENST00000359218.10:c.73997_73998insC (TTN) ENSP00000352154.5:p.Ala24667CysfsTer5
ENST00000342175.10:c.74198_74199insC (TTN) ENSP00000340554.6:p.Ala24734CysfsTer5
ENST00000342992.10:c.93113_93114insC (TTN) ENSP00000343764.6:p.Ala31039CysfsTer5
ENST00000359218.9:c.73997_73998insC (TTN) ENSP00000352154.5:p.Ala24667CysfsTer5
ENST00000460472.6:c.73622_73623insC (TTN) ENSP00000434586.1:p.Ala24542CysfsTer5
ENST00000589042.5:c.100817_100818insC (TTN) MANE Select ENSP00000467141.1:p.Ala33607CysfsTer5
ENST00000591111.5:c.95894_95895insC (TTN) ENSP00000465570.1:p.Ala31966CysfsTer5
ENST00000615779.4:c.95894_95895insC (TTN) ENSP00000483597.1:p.Ala31966CysfsTer5
NM_001256850.1:c.95894_95895insC (TTN) NP_001243779.1:p.Ala31966CysfsTer5
NM_001267550.2:c.100817_100818insC (TTN) MANE Select NP_001254479.2:p.Ala33607CysfsTer5
NM_003319.4:c.73622_73623insC (TTN) NP_003310.4:p.Ala24542CysfsTer5
NM_133378.4:c.93113_93114insC (TTN) NP_596869.4:p.Ala31039CysfsTer5
NM_133432.3:c.73997_73998insC (TTN) NP_597676.3:p.Ala24667CysfsTer5
NM_133437.4:c.74198_74199insC (TTN) NP_597681.4:p.Ala24734CysfsTer5
NR_038271.1:n.446+12161_446+12162insG (TTN-AS1)
NR_038272.1:n.285_286insG (TTN-AS1)
XM_011511729.1:c.99914_99915insC (TTN) XP_011510031.1:p.Ala33306CysfsTer5
XM_011511730.1:c.73808_73809insC (TTN) XP_011510032.1:p.Ala24604CysfsTer5
XM_011511731.1:c.73667_73668insC (TTN) XP_011510033.1:p.Ala24557CysfsTer5
XM_017004819.1:c.99710_99711insC (TTN) XP_016860308.1:p.Ala33238CysfsTer5
XM_017004820.1:c.95108_95109insC (TTN) XP_016860309.1:p.Ala31704CysfsTer5
XM_017004821.1:c.95105_95106insC (TTN) XP_016860310.1:p.Ala31703CysfsTer5
XM_017004822.1:c.92147_92148insC (TTN) XP_016860311.1:p.Ala30717CysfsTer5
XM_017004823.1:c.73763_73764insC (TTN) XP_016860312.1:p.Ala24589CysfsTer5
XM_024453094.1:c.95258_95259insC (TTN) XP_024308862.1:p.Ala31754CysfsTer5
XM_024453095.1:c.95255_95256insC (TTN) XP_024308863.1:p.Ala31753CysfsTer5
XM_024453096.1:c.94688_94689insC (TTN) XP_024308864.1:p.Ala31564CysfsTer5
XM_024453097.1:c.92030_92031insC (TTN) XP_024308865.1:p.Ala30678CysfsTer5
XM_024453098.1:c.91949_91950insC (TTN) XP_024308866.1:p.Ala30651CysfsTer5
XM_024453099.1:c.73712_73713insC (TTN) XP_024308867.1:p.Ala24572CysfsTer5
XM_024453100.1:c.63566_63567insC (TTN) XP_024308868.1:p.Ala21190CysfsTer5