Canonical Allele Identifier: CA2503243495

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614560_178614561insTG , CM000664.2:g.178614560_178614561insTG GRCh38
NC_000002.11:g.179479287_179479288insTG , CM000664.1:g.179479287_179479288insTG GRCh37
NC_000002.10:g.179187532_179187533insTG NCBI36
NG_011618.3:g.221242_221243insCA , LRG_391:g.221242_221243insCA
NG_051363.1:g.96734_96735insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41249_41250insCA (TTN) ENSP00000343764.6:p.Val13751MetfsTer17
ENST00000342175.11:c.22334_22335insCA (TTN) ENSP00000340554.6:p.Val7446MetfsTer17
ENST00000359218.10:c.22133_22134insCA (TTN) ENSP00000352154.5:p.Val7379MetfsTer17
ENST00000342175.10:c.22334_22335insCA (TTN) ENSP00000340554.6:p.Val7446MetfsTer17
ENST00000342992.10:c.41249_41250insCA (TTN) ENSP00000343764.6:p.Val13751MetfsTer17
ENST00000359218.9:c.22133_22134insCA (TTN) ENSP00000352154.5:p.Val7379MetfsTer17
ENST00000460472.6:c.21758_21759insCA (TTN) ENSP00000434586.1:p.Val7254MetfsTer17
ENST00000589042.5:c.48953_48954insCA (TTN) MANE Select ENSP00000467141.1:p.Val16319MetfsTer17
ENST00000591111.5:c.44030_44031insCA (TTN) ENSP00000465570.1:p.Val14678MetfsTer17
ENST00000615779.4:c.44030_44031insCA (TTN) ENSP00000483597.1:p.Val14678MetfsTer17
NM_001256850.1:c.44030_44031insCA (TTN) NP_001243779.1:p.Val14678MetfsTer17
NM_001267550.2:c.48953_48954insCA (TTN) MANE Select NP_001254479.2:p.Val16319MetfsTer17
NM_003319.4:c.21758_21759insCA (TTN) NP_003310.4:p.Val7254MetfsTer17
NM_133378.4:c.41249_41250insCA (TTN) NP_596869.4:p.Val13751MetfsTer17
NM_133432.3:c.22133_22134insCA (TTN) NP_597676.3:p.Val7379MetfsTer17
NM_133437.4:c.22334_22335insCA (TTN) NP_597681.4:p.Val7446MetfsTer17
NR_038271.1:n.1308_1309insTG (TTN-AS1)
XM_011511729.1:c.48050_48051insCA (TTN) XP_011510031.1:p.Val16018MetfsTer17
XM_011511730.1:c.21944_21945insCA (TTN) XP_011510032.1:p.Val7316MetfsTer17
XM_011511731.1:c.21803_21804insCA (TTN) XP_011510033.1:p.Val7269MetfsTer17
XM_017004819.1:c.47846_47847insCA (TTN) XP_016860308.1:p.Val15950MetfsTer17
XM_017004820.1:c.43244_43245insCA (TTN) XP_016860309.1:p.Val14416MetfsTer17
XM_017004821.1:c.43241_43242insCA (TTN) XP_016860310.1:p.Val14415MetfsTer17
XM_017004822.1:c.40283_40284insCA (TTN) XP_016860311.1:p.Val13429MetfsTer17
XM_017004823.1:c.21899_21900insCA (TTN) XP_016860312.1:p.Val7301MetfsTer17
XM_024453094.1:c.43394_43395insCA (TTN) XP_024308862.1:p.Val14466MetfsTer17
XM_024453095.1:c.43391_43392insCA (TTN) XP_024308863.1:p.Val14465MetfsTer17
XM_024453096.1:c.42824_42825insCA (TTN) XP_024308864.1:p.Val14276MetfsTer17
XM_024453097.1:c.40166_40167insCA (TTN) XP_024308865.1:p.Val13390MetfsTer17
XM_024453098.1:c.40085_40086insCA (TTN) XP_024308866.1:p.Val13363MetfsTer17
XM_024453099.1:c.21848_21849insCA (TTN) XP_024308867.1:p.Val7284MetfsTer17
XM_024453100.1:c.11702_11703insCA (TTN) XP_024308868.1:p.Val3902MetfsTer17