Canonical Allele Identifier: CA2573051755

Linked Data

dbSNP Id: rs2154136913

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535798_178535799insTCATGCTCTCC , CM000664.2:g.178535798_178535799insTCATGCTCTCC GRCh38
NC_000002.11:g.179400525_179400526insTCATGCTCTCC , CM000664.1:g.179400525_179400526insTCATGCTCTCC GRCh37
NC_000002.10:g.179108771_179108772insTCATGCTCTCC NCBI36
NG_011618.3:g.300004_300005insGGAGAGCATGA , LRG_391:g.300004_300005insGGAGAGCATGA
NG_051363.1:g.17972_17973insTCATGCTCTCC

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.93112_93113insGGAGAGCATGA (TTN) ENSP00000343764.6:p.His31038ArgfsTer4
ENST00000342175.11:c.74197_74198insGGAGAGCATGA (TTN) ENSP00000340554.6:p.His24733ArgfsTer4
ENST00000359218.10:c.73996_73997insGGAGAGCATGA (TTN) ENSP00000352154.5:p.His24666ArgfsTer4
ENST00000342175.10:c.74197_74198insGGAGAGCATGA (TTN) ENSP00000340554.6:p.His24733ArgfsTer4
ENST00000342992.10:c.93112_93113insGGAGAGCATGA (TTN) ENSP00000343764.6:p.His31038ArgfsTer4
ENST00000359218.9:c.73996_73997insGGAGAGCATGA (TTN) ENSP00000352154.5:p.His24666ArgfsTer4
ENST00000460472.6:c.73621_73622insGGAGAGCATGA (TTN) ENSP00000434586.1:p.His24541ArgfsTer4
ENST00000589042.5:c.100816_100817insGGAGAGCATGA (TTN) MANE Select ENSP00000467141.1:p.His33606ArgfsTer4
ENST00000591111.5:c.95893_95894insGGAGAGCATGA (TTN) ENSP00000465570.1:p.His31965ArgfsTer4
ENST00000615779.4:c.95893_95894insGGAGAGCATGA (TTN) ENSP00000483597.1:p.His31965ArgfsTer4
NM_001256850.1:c.95893_95894insGGAGAGCATGA (TTN) NP_001243779.1:p.His31965ArgfsTer4
NM_001267550.2:c.100816_100817insGGAGAGCATGA (TTN) MANE Select NP_001254479.2:p.His33606ArgfsTer4
NM_003319.4:c.73621_73622insGGAGAGCATGA (TTN) NP_003310.4:p.His24541ArgfsTer4
NM_133378.4:c.93112_93113insGGAGAGCATGA (TTN) NP_596869.4:p.His31038ArgfsTer4
NM_133432.3:c.73996_73997insGGAGAGCATGA (TTN) NP_597676.3:p.His24666ArgfsTer4
NM_133437.4:c.74197_74198insGGAGAGCATGA (TTN) NP_597681.4:p.His24733ArgfsTer4
NR_038271.1:n.446+12162_446+12163insTCATGCTCTCC (TTN-AS1)
NR_038272.1:n.286_287insTCATGCTCTCC (TTN-AS1)
XM_011511729.1:c.99913_99914insGGAGAGCATGA (TTN) XP_011510031.1:p.His33305ArgfsTer4
XM_011511730.1:c.73807_73808insGGAGAGCATGA (TTN) XP_011510032.1:p.His24603ArgfsTer4
XM_011511731.1:c.73666_73667insGGAGAGCATGA (TTN) XP_011510033.1:p.His24556ArgfsTer4
XM_017004819.1:c.99709_99710insGGAGAGCATGA (TTN) XP_016860308.1:p.His33237ArgfsTer4
XM_017004820.1:c.95107_95108insGGAGAGCATGA (TTN) XP_016860309.1:p.His31703ArgfsTer4
XM_017004821.1:c.95104_95105insGGAGAGCATGA (TTN) XP_016860310.1:p.His31702ArgfsTer4
XM_017004822.1:c.92146_92147insGGAGAGCATGA (TTN) XP_016860311.1:p.His30716ArgfsTer4
XM_017004823.1:c.73762_73763insGGAGAGCATGA (TTN) XP_016860312.1:p.His24588ArgfsTer4
XM_024453094.1:c.95257_95258insGGAGAGCATGA (TTN) XP_024308862.1:p.His31753ArgfsTer4
XM_024453095.1:c.95254_95255insGGAGAGCATGA (TTN) XP_024308863.1:p.His31752ArgfsTer4
XM_024453096.1:c.94687_94688insGGAGAGCATGA (TTN) XP_024308864.1:p.His31563ArgfsTer4
XM_024453097.1:c.92029_92030insGGAGAGCATGA (TTN) XP_024308865.1:p.His30677ArgfsTer4
XM_024453098.1:c.91948_91949insGGAGAGCATGA (TTN) XP_024308866.1:p.His30650ArgfsTer4
XM_024453099.1:c.73711_73712insGGAGAGCATGA (TTN) XP_024308867.1:p.His24571ArgfsTer4
XM_024453100.1:c.63565_63566insGGAGAGCATGA (TTN) XP_024308868.1:p.His21189ArgfsTer4