Canonical Allele Identifier: CA1310518141

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532239_178532244delinsGAAGTC , CM000664.2:g.178532239_178532244delinsGAAGTC GRCh38
NC_000002.11:g.179396966_179396971delinsGAAGTC , CM000664.1:g.179396966_179396971delinsGAAGTC GRCh37
NC_000002.10:g.179105212_179105217delinsGAAGTC NCBI36
NG_011618.3:g.303559_303564delinsGACTTC , LRG_391:g.303559_303564delinsGACTTC
NG_051363.1:g.14413_14418delinsGAAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96667_96672delinsGACTTC (TTN) ENSP00000343764.6:p.Asp32223=
ENST00000342175.11:c.77752_77757delinsGACTTC (TTN) ENSP00000340554.6:p.Asp25918=
ENST00000359218.10:c.77551_77556delinsGACTTC (TTN) ENSP00000352154.5:p.Asp25851=
ENST00000342175.10:c.77752_77757delinsGACTTC (TTN) ENSP00000340554.6:p.Asp25918=
ENST00000342992.10:c.96667_96672delinsGACTTC (TTN) ENSP00000343764.6:p.Asp32223=
ENST00000359218.9:c.77551_77556delinsGACTTC (TTN) ENSP00000352154.5:p.Asp25851=
ENST00000460472.6:c.77176_77181delinsGACTTC (TTN) ENSP00000434586.1:p.Asp25726=
ENST00000589042.5:c.104371_104376delinsGACTTC (TTN) MANE Select ENSP00000467141.1:p.Asp34791=
ENST00000591111.5:c.99448_99453delinsGACTTC (TTN) ENSP00000465570.1:p.Asp33150=
ENST00000615779.4:c.99448_99453delinsGACTTC (TTN) ENSP00000483597.1:p.Asp33150=
NM_001256850.1:c.99448_99453delinsGACTTC (TTN) NP_001243779.1:p.Asp33150=
NM_001267550.2:c.104371_104376delinsGACTTC (TTN) MANE Select NP_001254479.2:p.Asp34791=
NM_003319.4:c.77176_77181delinsGACTTC (TTN) NP_003310.4:p.Asp25726=
NM_133378.4:c.96667_96672delinsGACTTC (TTN) NP_596869.4:p.Asp32223=
NM_133432.3:c.77551_77556delinsGACTTC (TTN) NP_597676.3:p.Asp25851=
NM_133437.4:c.77752_77757delinsGACTTC (TTN) NP_597681.4:p.Asp25918=
NR_038271.1:n.446+8603_446+8608delinsGAAGTC (TTN-AS1)
NR_038272.1:n.220-3493_220-3488delinsGAAGTC (TTN-AS1)
XM_011511729.1:c.103468_103473delinsGACTTC (TTN) XP_011510031.1:p.Asp34490=
XM_011511730.1:c.77362_77367delinsGACTTC (TTN) XP_011510032.1:p.Asp25788=
XM_011511731.1:c.77221_77226delinsGACTTC (TTN) XP_011510033.1:p.Asp25741=
XM_017004819.1:c.103264_103269delinsGACTTC (TTN) XP_016860308.1:p.Asp34422=
XM_017004820.1:c.98662_98667delinsGACTTC (TTN) XP_016860309.1:p.Asp32888=
XM_017004821.1:c.98659_98664delinsGACTTC (TTN) XP_016860310.1:p.Asp32887=
XM_017004822.1:c.95701_95706delinsGACTTC (TTN) XP_016860311.1:p.Asp31901=
XM_017004823.1:c.77317_77322delinsGACTTC (TTN) XP_016860312.1:p.Asp25773=
XM_024453094.1:c.98812_98817delinsGACTTC (TTN) XP_024308862.1:p.Asp32938=
XM_024453095.1:c.98809_98814delinsGACTTC (TTN) XP_024308863.1:p.Asp32937=
XM_024453096.1:c.98242_98247delinsGACTTC (TTN) XP_024308864.1:p.Asp32748=
XM_024453097.1:c.95584_95589delinsGACTTC (TTN) XP_024308865.1:p.Asp31862=
XM_024453098.1:c.95503_95508delinsGACTTC (TTN) XP_024308866.1:p.Asp31835=
XM_024453099.1:c.77266_77271delinsGACTTC (TTN) XP_024308867.1:p.Asp25756=
XM_024453100.1:c.67120_67125delinsGACTTC (TTN) XP_024308868.1:p.Asp22374=