Canonical Allele Identifier: CA2580616614
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2127283
ClinVar RCV Id: RCV003047712

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178689915_178689916del , CM000664.2:g.178689915_178689916del GRCh38
NC_000002.11:g.179554642_179554643del , CM000664.1:g.179554642_179554643del GRCh37
NC_000002.10:g.179262887_179262888del NCBI36
NG_011618.3:g.145890_145891del , LRG_391:g.145890_145891del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.28031-17_28031-16del ENSP00000343764.6:n.28031-17_28031-16del
ENST00000342175.11:c.13859-47596_13859-47595del ENSP00000340554.6:n.13859-47596_13859-475...
ENST00000359218.10:c.13658-47596_13658-47595del ENSP00000352154.5:n.13658-47596_13658-475...
ENST00000342175.10:c.13859-47596_13859-47595del ENSP00000340554.6:n.13859-47596_13859-475...
ENST00000342992.10:c.28031-17_28031-16del ENSP00000343764.6:n.28031-17_28031-16del
ENST00000359218.9:c.13658-47596_13658-47595del ENSP00000352154.5:n.13658-47596_13658-475...
ENST00000414766.5:c.1397-17_1397-16del ENSP00000401501.1:n.1397-17_1397-16del
ENST00000460472.6:c.13283-47596_13283-47595del ENSP00000434586.1:n.13283-47596_13283-475...
ENST00000589042.5:c.31763-17_31763-16del MANE Select ENSP00000467141.1:n.31763-17_31763-16del
ENST00000591111.5:c.30812-17_30812-16del ENSP00000465570.1:n.30812-17_30812-16del
ENST00000615779.4:c.30812-17_30812-16del ENSP00000483597.1:n.30812-17_30812-16del
NM_001256850.1:c.30812-17_30812-16del NP_001243779.1:n.30812-17_30812-16del
NM_001267550.2:c.31763-17_31763-16del MANE Select NP_001254479.2:n.31763-17_31763-16del
NM_003319.4:c.13283-47596_13283-47595del NP_003310.4:n.13283-47596_13283-47595del
NM_133378.4:c.28031-17_28031-16del NP_596869.4:n.28031-17_28031-16del
NM_133432.3:c.13658-47596_13658-47595del NP_597676.3:n.13658-47596_13658-47595del
NM_133437.4:c.13859-47596_13859-47595del NP_597681.4:n.13859-47596_13859-47595del
XM_011511729.1:c.30860-17_30860-16del XP_011510031.1:n.30860-17_30860-16del
XM_011511730.1:c.13469-47596_13469-47595del XP_011510032.1:n.13469-47596_13469-47595d...
XM_011511731.1:c.13328-47596_13328-47595del XP_011510033.1:n.13328-47596_13328-47595d...
XM_017004819.1:c.30815-17_30815-16del XP_016860308.1:n.30815-17_30815-16del
XM_017004820.1:c.28034-17_28034-16del XP_016860309.1:n.28034-17_28034-16del
XM_017004821.1:c.28031-17_28031-16del XP_016860310.1:n.28031-17_28031-16del
XM_017004822.1:c.30815-17_30815-16del XP_016860311.1:n.30815-17_30815-16del
XM_017004823.1:c.13424-47596_13424-47595del XP_016860312.1:n.13424-47596_13424-47595d...
XM_024453094.1:c.30815-17_30815-16del XP_024308862.1:n.30815-17_30815-16del
XM_024453095.1:c.30815-17_30815-16del XP_024308863.1:n.30815-17_30815-16del
XM_024453096.1:c.30815-17_30815-16del XP_024308864.1:n.30815-17_30815-16del
XM_024453097.1:c.30815-17_30815-16del XP_024308865.1:n.30815-17_30815-16del
XM_024453098.1:c.30815-17_30815-16del XP_024308866.1:n.30815-17_30815-16del
XM_024453099.1:c.13424-47596_13424-47595del XP_024308867.1:n.13424-47596_13424-47595d...