Canonical Allele Identifier: CA775819223

Gene: TBCD

Linked Data

• dbSNP Id: rs1472820214
• MyVariant Identifiers: chr17:g.80882868_80882869insG (hg19) ; chr17:g.82924992_82924993insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924993dup , CM000679.2:g.82924993dup	GRCh38
NC_000017.10:g.80882869dup , CM000679.1:g.80882869dup	GRCh37
NC_000017.9:g.78476158dup	NCBI36
NG_011721.1:g.177930dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000574886.2:n.1523dup
ENST00000576677.6:n.1444dup
ENST00000681983.1:n.2451dup
ENST00000682099.1:n.1212dup
ENST00000682213.1:c.*286dup	ENSP00000508166.1:n.*286dup
ENST00000682315.1:c.629dup	ENSP00000507232.1:p.Cys211LeufsTer?
ENST00000682479.1:c.2405dup	ENSP00000508214.1:p.Cys803LeufsTer?
ENST00000682610.1:n.1555dup
ENST00000682654.1:c.*286dup	ENSP00000507412.1:n.*286dup
ENST00000682722.1:c.2264dup	ENSP00000508364.1:p.Cys756LeufsTer?
ENST00000683041.1:c.*286dup	ENSP00000506994.1:n.*286dup
ENST00000683184.1:c.*1968dup	ENSP00000507757.1:n.*1968dup
ENST00000683282.1:c.2231dup	ENSP00000506913.1:p.Cys745LeufsTer?
ENST00000683444.1:c.*1892dup	ENSP00000507553.1:n.*1892dup
ENST00000683584.1:n.1138dup
ENST00000683821.1:c.629dup	ENSP00000507651.1:p.Cys211LeufsTer?
ENST00000683839.1:n.1769dup
ENST00000684000.1:c.2399dup	ENSP00000506795.1:p.Cys801LeufsTer?
ENST00000684188.1:c.2126dup	ENSP00000507153.1:p.Cys710LeufsTer?
ENST00000684349.1:c.2501dup	ENSP00000508067.1:p.Cys835LeufsTer?
ENST00000684361.1:c.2315dup	ENSP00000507364.1:p.Cys773LeufsTer?
ENST00000684408.1:c.1958dup	ENSP00000506837.1:p.Cys654LeufsTer?
ENST00000684429.1:c.2243dup	ENSP00000507224.1:p.Cys749LeufsTer?
ENST00000684464.1:c.2408dup	ENSP00000508333.1:p.Cys804LeufsTer?
ENST00000684544.1:c.2234dup	ENSP00000507337.1:p.Cys746LeufsTer?
ENST00000684559.1:n.1070dup
ENST00000684760.1:c.2582dup	ENSP00000507696.1:p.Cys862LeufsTer?
ENST00000684776.1:c.*798dup	ENSP00000507861.1:n.*798dup
ENST00000355528.9:c.2315dup MANE Select	ENSP00000347719.4:p.Cys773LeufsTer?
ENST00000355528.8:c.2315dup	ENSP00000347719.4:p.Cys773LeufsTer?
ENST00000539345.6:c.2315dup	ENSP00000440671.2:p.Cys773LeufsTer?
ENST00000571618.5:n.493dup
ENST00000571796.5:n.973dup
ENST00000574422.1:c.629dup	ENSP00000458599.1:p.Cys211LeufsTer?
ENST00000574818.5:n.373dup
ENST00000574886.1:n.699dup
ENST00000574975.5:c.692dup	ENSP00000461680.1:p.Cys232LeufsTer?
ENST00000576760.5:c.629dup	ENSP00000460949.1:p.Cys211LeufsTer?
NM_005993.4:c.2315dup	NP_005984.3:p.Cys773LeufsTer?
XM_005256396.3:c.2264dup	XP_005256453.1:p.Cys756LeufsTer?
XM_005256399.3:c.1031dup	XP_005256456.1:p.Cys345LeufsTer?
XM_005256400.3:c.629dup	XP_005256457.1:p.Cys211LeufsTer?
XM_005256401.3:c.629dup	XP_005256458.1:p.Cys211LeufsTer?
XM_005256402.3:c.629dup	XP_005256459.1:p.Cys211LeufsTer?
XM_005256403.3:c.629dup	XP_005256460.1:p.Cys211LeufsTer?
XM_005256404.3:c.629dup	XP_005256461.1:p.Cys211LeufsTer?
XM_006722290.2:c.2234dup	XP_006722353.1:p.Cys746LeufsTer?
XM_006722291.2:c.1019dup	XP_006722354.1:p.Cys341LeufsTer?
XM_006722292.2:c.629dup	XP_006722355.1:p.Cys211LeufsTer?
XM_011523589.1:c.1970dup	XP_011521891.1:p.Cys658LeufsTer?
XM_011523590.1:c.1958dup	XP_011521892.1:p.Cys654LeufsTer?
XM_011523591.1:c.1955dup	XP_011521893.1:p.Cys653LeufsTer?
XM_011523592.1:c.1868dup	XP_011521894.1:p.Cys624LeufsTer?
XM_011523593.1:c.1562dup	XP_011521895.1:p.Cys522LeufsTer?
XM_011523594.1:c.1043dup	XP_011521896.1:p.Cys349LeufsTer?
XM_011523595.1:c.1010dup	XP_011521897.1:p.Cys338LeufsTer?
XM_011523596.1:c.*46dup	XP_011521898.1:n.*46dup
XM_011523597.1:c.776dup	XP_011521899.1:p.Cys260LeufsTer?
XM_011523598.1:c.773dup	XP_011521900.1:p.Cys259LeufsTer?
XM_011523599.1:c.767dup	XP_011521901.1:p.Cys257LeufsTer?
XM_011523600.1:c.629dup	XP_011521902.1:p.Cys211LeufsTer?
XR_430033.2:n.2423dup
XM_005256396.4:c.2264dup	XP_005256453.1:p.Cys756LeufsTer?
XM_005256399.5:c.1031dup	XP_005256456.1:p.Cys345LeufsTer?
XM_005256404.4:c.629dup	XP_005256461.1:p.Cys211LeufsTer?
XM_006722291.4:c.1019dup	XP_006722354.1:p.Cys341LeufsTer?
XM_006722292.3:c.629dup	XP_006722355.1:p.Cys211LeufsTer?
XM_011523589.2:c.1970dup	XP_011521891.1:p.Cys658LeufsTer?
XM_011523591.2:c.1955dup	XP_011521893.1:p.Cys653LeufsTer?
XM_011523593.2:c.1562dup	XP_011521895.1:p.Cys522LeufsTer?
XM_011523594.2:c.1043dup	XP_011521896.1:p.Cys349LeufsTer?
XM_011523595.3:c.1010dup	XP_011521897.1:p.Cys338LeufsTer?
XM_011523597.2:c.776dup	XP_011521899.1:p.Cys260LeufsTer?
XM_011523599.2:c.767dup	XP_011521901.1:p.Cys257LeufsTer?
XM_011523600.3:c.629dup	XP_011521902.1:p.Cys211LeufsTer?
XM_017024987.1:c.2126dup	XP_016880476.1:p.Cys710LeufsTer?
XM_017024989.1:c.677dup	XP_016880478.1:p.Cys227LeufsTer?
XM_017024990.2:c.629dup	XP_016880479.1:p.Cys211LeufsTer?
XM_024450899.1:c.629dup	XP_024306667.1:p.Cys211LeufsTer?
XM_024450900.1:c.629dup	XP_024306668.1:p.Cys211LeufsTer?
XM_024450901.1:c.629dup	XP_024306669.1:p.Cys211LeufsTer?
XM_024450902.1:c.629dup	XP_024306670.1:p.Cys211LeufsTer?
XR_001752597.1:n.2423dup
XR_001752598.1:n.2423dup
XR_001752599.1:n.2423dup
XR_001752600.1:n.2341dup
NM_005993.5:c.2315dup MANE Select	NP_005984.3:p.Cys773LeufsTer?