Canonical Allele Identifier: CA2279278080

Gene: TBCD

Linked Data

• ClinVar Variation Id: 973248
• ClinVar RCV Id: RCV001249656
• dbSNP Id: rs2061632089

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924983_82924985del , CM000679.2:g.82924983_82924985del	GRCh38
NC_000017.10:g.80882859_80882861del , CM000679.1:g.80882859_80882861del	GRCh37
NC_000017.9:g.78476148_78476150del	NCBI36
NG_011721.1:g.177920_177922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1513_1515del
ENST00000576677.6:n.1434_1436del
ENST00000681983.1:n.2441_2443del
ENST00000682099.1:n.1202_1204del
ENST00000682213.1:c.*276_*278del	ENSP00000508166.1:n.*276_*278del
ENST00000682315.1:c.619_621del	ENSP00000507232.1:p.Glu207del
ENST00000682479.1:c.2395_2397del	ENSP00000508214.1:p.Glu799del
ENST00000682610.1:n.1545_1547del
ENST00000682654.1:c.*276_*278del	ENSP00000507412.1:n.*276_*278del
ENST00000682722.1:c.2254_2256del	ENSP00000508364.1:p.Glu752del
ENST00000683041.1:c.*276_*278del	ENSP00000506994.1:n.*276_*278del
ENST00000683184.1:c.*1958_*1960del	ENSP00000507757.1:n.*1958_*1960del
ENST00000683282.1:c.2221_2223del	ENSP00000506913.1:p.Glu741del
ENST00000683444.1:c.*1882_*1884del	ENSP00000507553.1:n.*1882_*1884del
ENST00000683584.1:n.1128_1130del
ENST00000683821.1:c.619_621del	ENSP00000507651.1:p.Glu207del
ENST00000683839.1:n.1759_1761del
ENST00000684000.1:c.2389_2391del	ENSP00000506795.1:p.Glu797del
ENST00000684188.1:c.2116_2118del	ENSP00000507153.1:p.Glu706del
ENST00000684349.1:c.2491_2493del	ENSP00000508067.1:p.Glu831del
ENST00000684361.1:c.2305_2307del	ENSP00000507364.1:p.Glu769del
ENST00000684408.1:c.1948_1950del	ENSP00000506837.1:p.Glu650del
ENST00000684429.1:c.2233_2235del	ENSP00000507224.1:p.Glu745del
ENST00000684464.1:c.2398_2400del	ENSP00000508333.1:p.Glu800del
ENST00000684544.1:c.2224_2226del	ENSP00000507337.1:p.Glu742del
ENST00000684559.1:n.1060_1062del
ENST00000684760.1:c.2572_2574del	ENSP00000507696.1:p.Glu858del
ENST00000684776.1:c.*788_*790del	ENSP00000507861.1:n.*788_*790del
ENST00000355528.9:c.2305_2307del MANE Select	ENSP00000347719.4:p.Glu769del
ENST00000355528.8:c.2305_2307del	ENSP00000347719.4:p.Glu769del
ENST00000539345.6:c.2305_2307del	ENSP00000440671.2:p.Glu769del
ENST00000571618.5:n.483_485del
ENST00000571796.5:n.963_965del
ENST00000574422.1:c.619_621del	ENSP00000458599.1:p.Glu207del
ENST00000574818.5:n.363_365del
ENST00000574886.1:n.689_691del
ENST00000574975.5:c.682_684del	ENSP00000461680.1:p.Glu228del
ENST00000576760.5:c.619_621del	ENSP00000460949.1:p.Glu207del
NM_005993.4:c.2305_2307del	NP_005984.3:p.Glu769del
XM_005256396.3:c.2254_2256del	XP_005256453.1:p.Glu752del
XM_005256399.3:c.1021_1023del	XP_005256456.1:p.Glu341del
XM_005256400.3:c.619_621del	XP_005256457.1:p.Glu207del
XM_005256401.3:c.619_621del	XP_005256458.1:p.Glu207del
XM_005256402.3:c.619_621del	XP_005256459.1:p.Glu207del
XM_005256403.3:c.619_621del	XP_005256460.1:p.Glu207del
XM_005256404.3:c.619_621del	XP_005256461.1:p.Glu207del
XM_006722290.2:c.2224_2226del	XP_006722353.1:p.Glu742del
XM_006722291.2:c.1009_1011del	XP_006722354.1:p.Glu337del
XM_006722292.2:c.619_621del	XP_006722355.1:p.Glu207del
XM_011523589.1:c.1960_1962del	XP_011521891.1:p.Glu654del
XM_011523590.1:c.1948_1950del	XP_011521892.1:p.Glu650del
XM_011523591.1:c.1945_1947del	XP_011521893.1:p.Glu649del
XM_011523592.1:c.1858_1860del	XP_011521894.1:p.Glu620del
XM_011523593.1:c.1552_1554del	XP_011521895.1:p.Glu518del
XM_011523594.1:c.1033_1035del	XP_011521896.1:p.Glu345del
XM_011523595.1:c.1000_1002del	XP_011521897.1:p.Glu334del
XM_011523596.1:c.*36_*38del	XP_011521898.1:n.*36_*38del
XM_011523597.1:c.766_768del	XP_011521899.1:p.Glu256del
XM_011523598.1:c.763_765del	XP_011521900.1:p.Glu255del
XM_011523599.1:c.757_759del	XP_011521901.1:p.Glu253del
XM_011523600.1:c.619_621del	XP_011521902.1:p.Glu207del
XR_430033.2:n.2413_2415del
XM_005256396.4:c.2254_2256del	XP_005256453.1:p.Glu752del
XM_005256399.5:c.1021_1023del	XP_005256456.1:p.Glu341del
XM_005256404.4:c.619_621del	XP_005256461.1:p.Glu207del
XM_006722291.4:c.1009_1011del	XP_006722354.1:p.Glu337del
XM_006722292.3:c.619_621del	XP_006722355.1:p.Glu207del
XM_011523589.2:c.1960_1962del	XP_011521891.1:p.Glu654del
XM_011523591.2:c.1945_1947del	XP_011521893.1:p.Glu649del
XM_011523593.2:c.1552_1554del	XP_011521895.1:p.Glu518del
XM_011523594.2:c.1033_1035del	XP_011521896.1:p.Glu345del
XM_011523595.3:c.1000_1002del	XP_011521897.1:p.Glu334del
XM_011523597.2:c.766_768del	XP_011521899.1:p.Glu256del
XM_011523599.2:c.757_759del	XP_011521901.1:p.Glu253del
XM_011523600.3:c.619_621del	XP_011521902.1:p.Glu207del
XM_017024987.1:c.2116_2118del	XP_016880476.1:p.Glu706del
XM_017024989.1:c.667_669del	XP_016880478.1:p.Glu223del
XM_017024990.2:c.619_621del	XP_016880479.1:p.Glu207del
XM_024450899.1:c.619_621del	XP_024306667.1:p.Glu207del
XM_024450900.1:c.619_621del	XP_024306668.1:p.Glu207del
XM_024450901.1:c.619_621del	XP_024306669.1:p.Glu207del
XM_024450902.1:c.619_621del	XP_024306670.1:p.Glu207del
XR_001752597.1:n.2413_2415del
XR_001752598.1:n.2413_2415del
XR_001752599.1:n.2413_2415del
XR_001752600.1:n.2331_2333del
NM_005993.5:c.2305_2307del MANE Select	NP_005984.3:p.Glu769del