Canonical Allele Identifier: CA2839835324

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924973dup , CM000679.2:g.82924973dup	GRCh38
NC_000017.10:g.80882849dup , CM000679.1:g.80882849dup	GRCh37
NC_000017.9:g.78476138dup	NCBI36
NG_011721.1:g.177910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1503dup
ENST00000576677.6:n.1424dup
ENST00000681983.1:n.2431dup
ENST00000682099.1:n.1192dup
ENST00000682213.1:c.*266dup	ENSP00000508166.1:n.*266dup
ENST00000682315.1:c.609dup	ENSP00000507232.1:p.Asn204GlufsTer?
ENST00000682479.1:c.2385dup	ENSP00000508214.1:p.Asn796GlufsTer?
ENST00000682610.1:n.1535dup
ENST00000682654.1:c.*266dup	ENSP00000507412.1:n.*266dup
ENST00000682722.1:c.2244dup	ENSP00000508364.1:p.Asn749GlufsTer?
ENST00000683041.1:c.*266dup	ENSP00000506994.1:n.*266dup
ENST00000683184.1:c.*1948dup	ENSP00000507757.1:n.*1948dup
ENST00000683282.1:c.2211dup	ENSP00000506913.1:p.Asn738GlufsTer?
ENST00000683444.1:c.*1872dup	ENSP00000507553.1:n.*1872dup
ENST00000683584.1:n.1118dup
ENST00000683821.1:c.609dup	ENSP00000507651.1:p.Asn204GlufsTer?
ENST00000683839.1:n.1749dup
ENST00000684000.1:c.2379dup	ENSP00000506795.1:p.Asn794GlufsTer?
ENST00000684188.1:c.2106dup	ENSP00000507153.1:p.Asn703GlufsTer?
ENST00000684349.1:c.2481dup	ENSP00000508067.1:p.Asn828GlufsTer?
ENST00000684361.1:c.2295dup	ENSP00000507364.1:p.Asn766GlufsTer?
ENST00000684408.1:c.1938dup	ENSP00000506837.1:p.Asn647GlufsTer?
ENST00000684429.1:c.2223dup	ENSP00000507224.1:p.Asn742GlufsTer?
ENST00000684464.1:c.2388dup	ENSP00000508333.1:p.Asn797GlufsTer?
ENST00000684544.1:c.2214dup	ENSP00000507337.1:p.Asn739GlufsTer?
ENST00000684559.1:n.1050dup
ENST00000684760.1:c.2562dup	ENSP00000507696.1:p.Asn855GlufsTer?
ENST00000684776.1:c.*778dup	ENSP00000507861.1:n.*778dup
ENST00000355528.9:c.2295dup MANE Select	ENSP00000347719.4:p.Asn766GlufsTer?
ENST00000355528.8:c.2295dup	ENSP00000347719.4:p.Asn766GlufsTer?
ENST00000539345.6:c.2295dup	ENSP00000440671.2:p.Asn766GlufsTer?
ENST00000571618.5:n.473dup
ENST00000571796.5:n.953dup
ENST00000574422.1:c.609dup	ENSP00000458599.1:p.Asn204GlufsTer?
ENST00000574818.5:n.353dup
ENST00000574886.1:n.679dup
ENST00000574975.5:c.672dup	ENSP00000461680.1:p.Asn225GlufsTer?
ENST00000576760.5:c.609dup	ENSP00000460949.1:p.Asn204GlufsTer?
NM_005993.4:c.2295dup	NP_005984.3:p.Asn766GlufsTer?
XM_005256396.3:c.2244dup	XP_005256453.1:p.Asn749GlufsTer?
XM_005256399.3:c.1011dup	XP_005256456.1:p.Asn338GlufsTer?
XM_005256400.3:c.609dup	XP_005256457.1:p.Asn204GlufsTer?
XM_005256401.3:c.609dup	XP_005256458.1:p.Asn204GlufsTer?
XM_005256402.3:c.609dup	XP_005256459.1:p.Asn204GlufsTer?
XM_005256403.3:c.609dup	XP_005256460.1:p.Asn204GlufsTer?
XM_005256404.3:c.609dup	XP_005256461.1:p.Asn204GlufsTer?
XM_006722290.2:c.2214dup	XP_006722353.1:p.Asn739GlufsTer?
XM_006722291.2:c.999dup	XP_006722354.1:p.Asn334GlufsTer?
XM_006722292.2:c.609dup	XP_006722355.1:p.Asn204GlufsTer?
XM_011523589.1:c.1950dup	XP_011521891.1:p.Asn651GlufsTer?
XM_011523590.1:c.1938dup	XP_011521892.1:p.Asn647GlufsTer?
XM_011523591.1:c.1935dup	XP_011521893.1:p.Asn646GlufsTer?
XM_011523592.1:c.1848dup	XP_011521894.1:p.Asn617GlufsTer?
XM_011523593.1:c.1542dup	XP_011521895.1:p.Asn515GlufsTer?
XM_011523594.1:c.1023dup	XP_011521896.1:p.Asn342GlufsTer?
XM_011523595.1:c.990dup	XP_011521897.1:p.Asn331GlufsTer?
XM_011523596.1:c.*26dup	XP_011521898.1:n.*26dup
XM_011523597.1:c.756dup	XP_011521899.1:p.Asn253GlufsTer?
XM_011523598.1:c.753dup	XP_011521900.1:p.Asn252GlufsTer?
XM_011523599.1:c.747dup	XP_011521901.1:p.Asn250GlufsTer?
XM_011523600.1:c.609dup	XP_011521902.1:p.Asn204GlufsTer?
XR_430033.2:n.2403dup
XM_005256396.4:c.2244dup	XP_005256453.1:p.Asn749GlufsTer?
XM_005256399.5:c.1011dup	XP_005256456.1:p.Asn338GlufsTer?
XM_005256404.4:c.609dup	XP_005256461.1:p.Asn204GlufsTer?
XM_006722291.4:c.999dup	XP_006722354.1:p.Asn334GlufsTer?
XM_006722292.3:c.609dup	XP_006722355.1:p.Asn204GlufsTer?
XM_011523589.2:c.1950dup	XP_011521891.1:p.Asn651GlufsTer?
XM_011523591.2:c.1935dup	XP_011521893.1:p.Asn646GlufsTer?
XM_011523593.2:c.1542dup	XP_011521895.1:p.Asn515GlufsTer?
XM_011523594.2:c.1023dup	XP_011521896.1:p.Asn342GlufsTer?
XM_011523595.3:c.990dup	XP_011521897.1:p.Asn331GlufsTer?
XM_011523597.2:c.756dup	XP_011521899.1:p.Asn253GlufsTer?
XM_011523599.2:c.747dup	XP_011521901.1:p.Asn250GlufsTer?
XM_011523600.3:c.609dup	XP_011521902.1:p.Asn204GlufsTer?
XM_017024987.1:c.2106dup	XP_016880476.1:p.Asn703GlufsTer?
XM_017024989.1:c.657dup	XP_016880478.1:p.Asn220GlufsTer?
XM_017024990.2:c.609dup	XP_016880479.1:p.Asn204GlufsTer?
XM_024450899.1:c.609dup	XP_024306667.1:p.Asn204GlufsTer?
XM_024450900.1:c.609dup	XP_024306668.1:p.Asn204GlufsTer?
XM_024450901.1:c.609dup	XP_024306669.1:p.Asn204GlufsTer?
XM_024450902.1:c.609dup	XP_024306670.1:p.Asn204GlufsTer?
XR_001752597.1:n.2403dup
XR_001752598.1:n.2403dup
XR_001752599.1:n.2403dup
XR_001752600.1:n.2321dup
NM_005993.5:c.2295dup MANE Select	NP_005984.3:p.Asn766GlufsTer?