Canonical Allele Identifier: CA2810680236
Gene: TBCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82924980del , CM000679.2:g.82924980del GRCh38
NC_000017.10:g.80882856del , CM000679.1:g.80882856del GRCh37
NC_000017.9:g.78476145del NCBI36
NG_011721.1:g.177917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000574886.2:n.1510del
ENST00000576677.6:n.1431del
ENST00000681983.1:n.2438del
ENST00000682099.1:n.1199del
ENST00000682213.1:c.*273del ENSP00000508166.1:n.*273del
ENST00000682315.1:c.616del ENSP00000507232.1:p.Glu206ArgfsTer3
ENST00000682479.1:c.2392del ENSP00000508214.1:p.Glu798ArgfsTer3
ENST00000682610.1:n.1542del
ENST00000682654.1:c.*273del ENSP00000507412.1:n.*273del
ENST00000682722.1:c.2251del ENSP00000508364.1:p.Glu751ArgfsTer3
ENST00000683041.1:c.*273del ENSP00000506994.1:n.*273del
ENST00000683184.1:c.*1955del ENSP00000507757.1:n.*1955del
ENST00000683282.1:c.2218del ENSP00000506913.1:p.Glu740ArgfsTer3
ENST00000683444.1:c.*1879del ENSP00000507553.1:n.*1879del
ENST00000683584.1:n.1125del
ENST00000683821.1:c.616del ENSP00000507651.1:p.Glu206ArgfsTer3
ENST00000683839.1:n.1756del
ENST00000684000.1:c.2386del ENSP00000506795.1:p.Glu796ArgfsTer3
ENST00000684188.1:c.2113del ENSP00000507153.1:p.Glu705ArgfsTer3
ENST00000684349.1:c.2488del ENSP00000508067.1:p.Glu830ArgfsTer3
ENST00000684361.1:c.2302del ENSP00000507364.1:p.Glu768ArgfsTer3
ENST00000684408.1:c.1945del ENSP00000506837.1:p.Glu649ArgfsTer3
ENST00000684429.1:c.2230del ENSP00000507224.1:p.Glu744ArgfsTer3
ENST00000684464.1:c.2395del ENSP00000508333.1:p.Glu799ArgfsTer3
ENST00000684544.1:c.2221del ENSP00000507337.1:p.Glu741ArgfsTer3
ENST00000684559.1:n.1057del
ENST00000684760.1:c.2569del ENSP00000507696.1:p.Glu857ArgfsTer3
ENST00000684776.1:c.*785del ENSP00000507861.1:n.*785del
ENST00000355528.9:c.2302del MANE Select ENSP00000347719.4:p.Glu768ArgfsTer3
ENST00000355528.8:c.2302del ENSP00000347719.4:p.Glu768ArgfsTer3
ENST00000539345.6:c.2302del ENSP00000440671.2:p.Glu768ArgfsTer3
ENST00000571618.5:n.480del
ENST00000571796.5:n.960del
ENST00000574422.1:c.616del ENSP00000458599.1:p.Glu206ArgfsTer3
ENST00000574818.5:n.360del
ENST00000574886.1:n.686del
ENST00000574975.5:c.679del ENSP00000461680.1:p.Glu227ArgfsTer3
ENST00000576760.5:c.616del ENSP00000460949.1:p.Glu206ArgfsTer3
NM_005993.4:c.2302del NP_005984.3:p.Glu768ArgfsTer3
XM_005256396.3:c.2251del XP_005256453.1:p.Glu751ArgfsTer3
XM_005256399.3:c.1018del XP_005256456.1:p.Glu340ArgfsTer3
XM_005256400.3:c.616del XP_005256457.1:p.Glu206ArgfsTer3
XM_005256401.3:c.616del XP_005256458.1:p.Glu206ArgfsTer3
XM_005256402.3:c.616del XP_005256459.1:p.Glu206ArgfsTer3
XM_005256403.3:c.616del XP_005256460.1:p.Glu206ArgfsTer3
XM_005256404.3:c.616del XP_005256461.1:p.Glu206ArgfsTer3
XM_006722290.2:c.2221del XP_006722353.1:p.Glu741ArgfsTer3
XM_006722291.2:c.1006del XP_006722354.1:p.Glu336ArgfsTer3
XM_006722292.2:c.616del XP_006722355.1:p.Glu206ArgfsTer3
XM_011523589.1:c.1957del XP_011521891.1:p.Glu653ArgfsTer3
XM_011523590.1:c.1945del XP_011521892.1:p.Glu649ArgfsTer3
XM_011523591.1:c.1942del XP_011521893.1:p.Glu648ArgfsTer3
XM_011523592.1:c.1855del XP_011521894.1:p.Glu619ArgfsTer3
XM_011523593.1:c.1549del XP_011521895.1:p.Glu517ArgfsTer3
XM_011523594.1:c.1030del XP_011521896.1:p.Glu344ArgfsTer3
XM_011523595.1:c.997del XP_011521897.1:p.Glu333ArgfsTer3
XM_011523596.1:c.*33del XP_011521898.1:n.*33del
XM_011523597.1:c.763del XP_011521899.1:p.Glu255ArgfsTer3
XM_011523598.1:c.760del XP_011521900.1:p.Glu254ArgfsTer3
XM_011523599.1:c.754del XP_011521901.1:p.Glu252ArgfsTer3
XM_011523600.1:c.616del XP_011521902.1:p.Glu206ArgfsTer3
XR_430033.2:n.2410del
XM_005256396.4:c.2251del XP_005256453.1:p.Glu751ArgfsTer3
XM_005256399.5:c.1018del XP_005256456.1:p.Glu340ArgfsTer3
XM_005256404.4:c.616del XP_005256461.1:p.Glu206ArgfsTer3
XM_006722291.4:c.1006del XP_006722354.1:p.Glu336ArgfsTer3
XM_006722292.3:c.616del XP_006722355.1:p.Glu206ArgfsTer3
XM_011523589.2:c.1957del XP_011521891.1:p.Glu653ArgfsTer3
XM_011523591.2:c.1942del XP_011521893.1:p.Glu648ArgfsTer3
XM_011523593.2:c.1549del XP_011521895.1:p.Glu517ArgfsTer3
XM_011523594.2:c.1030del XP_011521896.1:p.Glu344ArgfsTer3
XM_011523595.3:c.997del XP_011521897.1:p.Glu333ArgfsTer3
XM_011523597.2:c.763del XP_011521899.1:p.Glu255ArgfsTer3
XM_011523599.2:c.754del XP_011521901.1:p.Glu252ArgfsTer3
XM_011523600.3:c.616del XP_011521902.1:p.Glu206ArgfsTer3
XM_017024987.1:c.2113del XP_016880476.1:p.Glu705ArgfsTer3
XM_017024989.1:c.664del XP_016880478.1:p.Glu222ArgfsTer3
XM_017024990.2:c.616del XP_016880479.1:p.Glu206ArgfsTer3
XM_024450899.1:c.616del XP_024306667.1:p.Glu206ArgfsTer3
XM_024450900.1:c.616del XP_024306668.1:p.Glu206ArgfsTer3
XM_024450901.1:c.616del XP_024306669.1:p.Glu206ArgfsTer3
XM_024450902.1:c.616del XP_024306670.1:p.Glu206ArgfsTer3
XR_001752597.1:n.2410del
XR_001752598.1:n.2410del
XR_001752599.1:n.2410del
XR_001752600.1:n.2328del
NM_005993.5:c.2302del MANE Select NP_005984.3:p.Glu768ArgfsTer3