Canonical Allele Identifier: CA1310511458

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530084_178530087delinsAGAG , CM000664.2:g.178530084_178530087delinsAGAG GRCh38
NC_000002.11:g.179394811_179394814delinsAGAG , CM000664.1:g.179394811_179394814delinsAGAG GRCh37
NC_000002.10:g.179103057_179103060delinsAGAG NCBI36
NG_011618.3:g.305716_305719delinsCTCT , LRG_391:g.305716_305719delinsCTCT
NG_051363.1:g.12258_12261delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98700_98703delinsCTCT (TTN) ENSP00000343764.6:p.Leu32900=
ENST00000342175.11:c.79785_79788delinsCTCT (TTN) ENSP00000340554.6:p.Leu26595=
ENST00000359218.10:c.79584_79587delinsCTCT (TTN) ENSP00000352154.5:p.Leu26528=
ENST00000342175.10:c.79785_79788delinsCTCT (TTN) ENSP00000340554.6:p.Leu26595=
ENST00000342992.10:c.98700_98703delinsCTCT (TTN) ENSP00000343764.6:p.Leu32900=
ENST00000359218.9:c.79584_79587delinsCTCT (TTN) ENSP00000352154.5:p.Leu26528=
ENST00000460472.6:c.79209_79212delinsCTCT (TTN) ENSP00000434586.1:p.Leu26403=
ENST00000589042.5:c.106404_106407delinsCTCT (TTN) MANE Select ENSP00000467141.1:p.Leu35468=
ENST00000591111.5:c.101481_101484delinsCTCT (TTN) ENSP00000465570.1:p.Leu33827=
ENST00000615779.4:c.101481_101484delinsCTCT (TTN) ENSP00000483597.1:p.Leu33827=
NM_001256850.1:c.101481_101484delinsCTCT (TTN) NP_001243779.1:p.Leu33827=
NM_001267550.2:c.106404_106407delinsCTCT (TTN) MANE Select NP_001254479.2:p.Leu35468=
NM_003319.4:c.79209_79212delinsCTCT (TTN) NP_003310.4:p.Leu26403=
NM_133378.4:c.98700_98703delinsCTCT (TTN) NP_596869.4:p.Leu32900=
NM_133432.3:c.79584_79587delinsCTCT (TTN) NP_597676.3:p.Leu26528=
NM_133437.4:c.79785_79788delinsCTCT (TTN) NP_597681.4:p.Leu26595=
NR_038271.1:n.446+6448_446+6451delinsAGAG (TTN-AS1)
NR_038272.1:n.220-5648_220-5645delinsAGAG (TTN-AS1)
XM_011511729.1:c.105501_105504delinsCTCT (TTN) XP_011510031.1:p.Leu35167=
XM_011511730.1:c.79395_79398delinsCTCT (TTN) XP_011510032.1:p.Leu26465=
XM_011511731.1:c.79254_79257delinsCTCT (TTN) XP_011510033.1:p.Leu26418=
XM_017004819.1:c.105297_105300delinsCTCT (TTN) XP_016860308.1:p.Leu35099=
XM_017004820.1:c.100695_100698delinsCTCT (TTN) XP_016860309.1:p.Leu33565=
XM_017004821.1:c.100692_100695delinsCTCT (TTN) XP_016860310.1:p.Leu33564=
XM_017004822.1:c.97734_97737delinsCTCT (TTN) XP_016860311.1:p.Leu32578=
XM_017004823.1:c.79350_79353delinsCTCT (TTN) XP_016860312.1:p.Leu26450=
XM_024453094.1:c.100845_100848delinsCTCT (TTN) XP_024308862.1:p.Leu33615=
XM_024453095.1:c.100842_100845delinsCTCT (TTN) XP_024308863.1:p.Leu33614=
XM_024453096.1:c.100275_100278delinsCTCT (TTN) XP_024308864.1:p.Leu33425=
XM_024453097.1:c.97617_97620delinsCTCT (TTN) XP_024308865.1:p.Leu32539=
XM_024453098.1:c.97536_97539delinsCTCT (TTN) XP_024308866.1:p.Leu32512=
XM_024453099.1:c.79299_79302delinsCTCT (TTN) XP_024308867.1:p.Leu26433=
XM_024453100.1:c.69153_69156delinsCTCT (TTN) XP_024308868.1:p.Leu23051=