Canonical Allele Identifier: CA16610264

Linked Data

ClinVar Variation Id: 405044
ClinVar RCV Id: RCV000463054
dbSNP Id: rs1064792916

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559829_178559842delinsT , CM000664.2:g.178559829_178559842delinsT GRCh38
NC_000002.11:g.179424556_179424569delinsT , CM000664.1:g.179424556_179424569delinsT GRCh37
NC_000002.10:g.179132802_179132815delinsT NCBI36
NG_011618.3:g.275961_275974delinsA , LRG_391:g.275961_275974delinsA
NG_051363.1:g.42003_42016delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.59671_59684delinsA ENSP00000340554.6:p.Leu19891MetfsTer7
ENST00000359218.10:n.59470_59483delinsA ENSP00000352154.5:p.Leu19824MetfsTer7
ENST00000342175.10:c.59671_59684delinsA ENSP00000340554.6:p.Leu19891MetfsTer7
ENST00000342992.10:c.78586_78599delinsA ENSP00000343764.6:p.Leu26196MetfsTer7
ENST00000359218.9:c.59470_59483delinsA ENSP00000352154.5:p.Leu19824MetfsTer7
ENST00000460472.6:c.59095_59108delinsA ENSP00000434586.1:p.Leu19699MetfsTer7
ENST00000589042.5:c.86290_86303delinsA MANE Select ENSP00000467141.1:p.Leu28764MetfsTer7
ENST00000591111.5:c.81367_81380delinsA ENSP00000465570.1:p.Leu27123MetfsTer7
ENST00000615779.4:c.81367_81380delinsA ENSP00000483597.1:p.Leu27123MetfsTer7
NM_001256850.1:c.81367_81380delinsA (TTN) NP_001243779.1:p.Leu27123MetfsTer7
NM_001267550.2:c.86290_86303delinsA (TTN) MANE Select NP_001254479.2:p.Leu28764MetfsTer7
NM_003319.4:c.59095_59108delinsA (TTN) NP_003310.4:p.Leu19699MetfsTer7
NM_133378.4:c.78586_78599delinsA (TTN) NP_596869.4:p.Leu26196MetfsTer7
NM_133432.3:c.59470_59483delinsA (TTN) NP_597676.3:p.Leu19824MetfsTer7
NM_133437.4:c.59671_59684delinsA (TTN) NP_597681.4:p.Leu19891MetfsTer7
NR_038271.1:n.447-11471_447-11458delinsT (TTN-AS1)
NR_038272.1:n.2043+17468_2043+17481delinsT (TTN-AS1)
XM_011511729.1:c.85387_85400delinsA (TTN) XP_011510031.1:p.Leu28463MetfsTer7
XM_011511730.1:c.59281_59294delinsA (TTN) XP_011510032.1:p.Leu19761MetfsTer7
XM_011511731.1:c.59140_59153delinsA (TTN) XP_011510033.1:p.Leu19714MetfsTer7
XM_017004819.1:c.85183_85196delinsA (TTN) XP_016860308.1:p.Leu28395MetfsTer7
XM_017004820.1:c.80581_80594delinsA (TTN) XP_016860309.1:p.Leu26861MetfsTer7
XM_017004821.1:c.80578_80591delinsA (TTN) XP_016860310.1:p.Leu26860MetfsTer7
XM_017004822.1:c.77620_77633delinsA (TTN) XP_016860311.1:p.Leu25874MetfsTer7
XM_017004823.1:c.59236_59249delinsA (TTN) XP_016860312.1:p.Leu19746MetfsTer7
XM_024453094.1:c.80731_80744delinsA (TTN) XP_024308862.1:p.Leu26911MetfsTer7
XM_024453095.1:c.80728_80741delinsA (TTN) XP_024308863.1:p.Leu26910MetfsTer7
XM_024453096.1:c.80161_80174delinsA (TTN) XP_024308864.1:p.Leu26721MetfsTer7
XM_024453097.1:c.77503_77516delinsA (TTN) XP_024308865.1:p.Leu25835MetfsTer7
XM_024453098.1:c.77422_77435delinsA (TTN) XP_024308866.1:p.Leu25808MetfsTer7
XM_024453099.1:c.59185_59198delinsA (TTN) XP_024308867.1:p.Leu19729MetfsTer7
XM_024453100.1:c.49039_49052delinsA (TTN) XP_024308868.1:p.Leu16347MetfsTer7