Canonical Allele Identifier: CA150646
Community Standard Title: NM_144628.4(TBC1D20):c.352_353del (p.Gln118GlufsTer10)
Gene: TBC1D20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.442029_442030del , CM000682.2:g.442029_442030del GRCh38
NC_000020.10:g.422673_422674del , CM000682.1:g.422673_422674del GRCh37
NC_000020.9:g.370673_370674del NCBI36
NG_034082.1:g.25525_25526del

Transcript Alleles

HGVS Amino-acid Change
NM_144628.4:c.352_353del MANE Select NP_653229.1:p.Gln118GlufsTer10
ENST00000354200.5:c.352_353del MANE Select ENSP00000346139.4:p.Gln118GlufsTer10
NM_144628.3:c.352_353del NP_653229.1:p.Gln118GlufsTer10
NR_111901.1:n.500_501del
NR_111901.2:n.480_481del
ENST00000354200.4:c.352_353del ENSP00000346139.4:p.Gln118GlufsTer10
ENST00000461188.6:n.227_228del
ENST00000461304.5:c.352_353del ENSP00000432280.1:p.Gln118GlufsTer10
ENST00000494633.1:n.490_491del
ENST00000679451.1:n.451_452del
ENST00000679741.1:c.352_353del ENSP00000504904.1:p.Gln118GlufsTer10
ENST00000679895.1:c.352_353del ENSP00000505197.1:p.Gln118GlufsTer10
ENST00000679944.1:c.352_353del ENSP00000506278.1:p.Gln118GlufsTer10
ENST00000679953.1:n.451_452del
ENST00000679973.1:c.352_353del ENSP00000506502.1:p.Gln118GlufsTer10
ENST00000680050.1:c.166_167del ENSP00000505464.1:p.Gln56GlufsTer10
ENST00000680088.1:n.497_498del
ENST00000680106.1:c.352_353del ENSP00000505500.1:p.Gln118GlufsTer10
ENST00000680284.1:c.352_353del ENSP00000506231.1:p.Gln118GlufsTer10
ENST00000680491.1:n.478_479del
ENST00000680515.1:c.166_167del ENSP00000506650.1:p.Gln56GlufsTer10
ENST00000680521.1:n.451_452del
ENST00000680792.1:c.352_353del ENSP00000506012.1:p.Gln118GlufsTer10
ENST00000680815.1:n.1947_1948del
ENST00000680911.1:c.352_353del ENSP00000506556.1:p.Gln118GlufsTer10
ENST00000680990.1:c.*124_*125del ENSP00000506050.1:n.*124_*125del
ENST00000681129.1:c.166_167del ENSP00000505329.1:p.Gln56GlufsTer10
ENST00000681193.1:n.1229_1230del
ENST00000681389.1:n.486_487del
ENST00000681414.1:c.271_272del ENSP00000505797.1:p.Gln91GlufsTer10
ENST00000681441.1:c.352_353del ENSP00000504992.1:p.Gln118GlufsTer10
ENST00000681539.1:c.352_353del ENSP00000505557.1:p.Gln118GlufsTer10
ENST00000681551.1:c.352_353del ENSP00000504974.1:p.Gln118GlufsTer10
ENST00000681636.1:c.352_353del ENSP00000506155.1:p.Gln118GlufsTer10
ENST00000681742.1:c.352_353del ENSP00000506122.1:p.Gln118GlufsTer10
ENST00000681777.1:c.352_353del ENSP00000506511.1:p.Gln118GlufsTer10
XM_005260661.1:c.352_353del XP_005260718.1:p.Gln118GlufsTer10
XM_006723540.2:c.166_167del XP_006723603.1:p.Gln56GlufsTer10
XM_006723540.3:c.166_167del XP_006723603.1:p.Gln56GlufsTer10
XM_017027645.1:c.166_167del XP_016883134.1:p.Gln56GlufsTer10