Canonical Allele Identifier: CA16617362

Linked Data

ClinVar Variation Id: 423038
ClinVar RCV Id: RCV000485601
dbSNP Id: rs1064796186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580575_178580578del , CM000664.2:g.178580575_178580578del GRCh38
NC_000002.11:g.179445302_179445305del , CM000664.1:g.179445302_179445305del GRCh37
NC_000002.10:g.179153548_179153551del NCBI36
NG_011618.3:g.255228_255231del , LRG_391:g.255228_255231del
NG_051363.1:g.62749_62752del

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59100_59103del (TTN) ENSP00000343764.6:p.Lys19701HisfsTer10
ENST00000342175.11:c.40185_40188del (TTN) ENSP00000340554.6:p.Lys13396HisfsTer10
ENST00000359218.10:c.39984_39987del (TTN) ENSP00000352154.5:p.Lys13329HisfsTer10
ENST00000342175.10:c.40185_40188del (TTN) ENSP00000340554.6:p.Lys13396HisfsTer10
ENST00000342992.10:c.59100_59103del (TTN) ENSP00000343764.6:p.Lys19701HisfsTer10
ENST00000359218.9:c.39984_39987del (TTN) ENSP00000352154.5:p.Lys13329HisfsTer10
ENST00000460472.6:c.39609_39612del (TTN) ENSP00000434586.1:p.Lys13204HisfsTer10
ENST00000589042.5:c.66804_66807del (TTN) MANE Select ENSP00000467141.1:p.Lys22269HisfsTer10
ENST00000591111.5:c.61881_61884del (TTN) ENSP00000465570.1:p.Lys20628HisfsTer10
ENST00000615779.4:c.61881_61884del (TTN) ENSP00000483597.1:p.Lys20628HisfsTer10
NM_001256850.1:c.61881_61884del (TTN) NP_001243779.1:p.Lys20628HisfsTer10
NM_001267550.2:c.66804_66807del (TTN) MANE Select NP_001254479.2:p.Lys22269HisfsTer10
NM_003319.4:c.39609_39612del (TTN) NP_003310.4:p.Lys13204HisfsTer10
NM_133378.4:c.59100_59103del (TTN) NP_596869.4:p.Lys19701HisfsTer10
NM_133432.3:c.39984_39987del (TTN) NP_597676.3:p.Lys13329HisfsTer10
NM_133437.4:c.40185_40188del (TTN) NP_597681.4:p.Lys13396HisfsTer10
NR_038271.1:n.596+9126_596+9129del (TTN-AS1)
NR_038272.1:n.2044-1997_2044-1994del (TTN-AS1)
XM_011511729.1:c.65901_65904del (TTN) XP_011510031.1:p.Lys21968HisfsTer10
XM_011511730.1:c.39795_39798del (TTN) XP_011510032.1:p.Lys13266HisfsTer10
XM_011511731.1:c.39654_39657del (TTN) XP_011510033.1:p.Lys13219HisfsTer10
XM_017004819.1:c.65697_65700del (TTN) XP_016860308.1:p.Lys21900HisfsTer10
XM_017004820.1:c.61095_61098del (TTN) XP_016860309.1:p.Lys20366HisfsTer10
XM_017004821.1:c.61092_61095del (TTN) XP_016860310.1:p.Lys20365HisfsTer10
XM_017004822.1:c.58134_58137del (TTN) XP_016860311.1:p.Lys19379HisfsTer10
XM_017004823.1:c.39750_39753del (TTN) XP_016860312.1:p.Lys13251HisfsTer10
XM_024453094.1:c.61245_61248del (TTN) XP_024308862.1:p.Lys20416HisfsTer10
XM_024453095.1:c.61242_61245del (TTN) XP_024308863.1:p.Lys20415HisfsTer10
XM_024453096.1:c.60675_60678del (TTN) XP_024308864.1:p.Lys20226HisfsTer10
XM_024453097.1:c.58017_58020del (TTN) XP_024308865.1:p.Lys19340HisfsTer10
XM_024453098.1:c.57936_57939del (TTN) XP_024308866.1:p.Lys19313HisfsTer10
XM_024453099.1:c.39699_39702del (TTN) XP_024308867.1:p.Lys13234HisfsTer10
XM_024453100.1:c.29553_29556del (TTN) XP_024308868.1:p.Lys9852HisfsTer10