Canonical Allele Identifier: CA2279278019

Gene: TBCD

Linked Data

• dbSNP Id: rs2061624632

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924875_82924891del , CM000679.2:g.82924875_82924891del	GRCh38
NC_000017.10:g.80882751_80882767del , CM000679.1:g.80882751_80882767del	GRCh37
NC_000017.9:g.78476040_78476056del	NCBI36
NG_011721.1:g.177812_177828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1469-64_1469-48del
ENST00000576677.6:n.1390-64_1390-48del
ENST00000681983.1:n.2397-64_2397-48del
ENST00000682099.1:n.1158-64_1158-48del
ENST00000682213.1:c.*232-64_*232-48del	ENSP00000508166.1:n.*232-64_*232-48del
ENST00000682315.1:c.575-64_575-48del	ENSP00000507232.1:n.575-64_575-48del
ENST00000682479.1:c.2351-64_2351-48del	ENSP00000508214.1:n.2351-64_2351-48del
ENST00000682610.1:n.1501-64_1501-48del
ENST00000682654.1:c.*232-64_*232-48del	ENSP00000507412.1:n.*232-64_*232-48del
ENST00000682722.1:c.2210-64_2210-48del	ENSP00000508364.1:n.2210-64_2210-48del
ENST00000683041.1:c.*232-64_*232-48del	ENSP00000506994.1:n.*232-64_*232-48del
ENST00000683184.1:c.*1914-64_*1914-48del	ENSP00000507757.1:n.*1914-64_*1914-48del
ENST00000683282.1:c.2177-64_2177-48del	ENSP00000506913.1:n.2177-64_2177-48del
ENST00000683444.1:c.*1838-64_*1838-48del	ENSP00000507553.1:n.*1838-64_*1838-48del
ENST00000683584.1:n.1084-64_1084-48del
ENST00000683821.1:c.575-64_575-48del	ENSP00000507651.1:n.575-64_575-48del
ENST00000683839.1:n.1715-64_1715-48del
ENST00000684000.1:c.2345-64_2345-48del	ENSP00000506795.1:n.2345-64_2345-48del
ENST00000684188.1:c.2072-64_2072-48del	ENSP00000507153.1:n.2072-64_2072-48del
ENST00000684349.1:c.2447-64_2447-48del	ENSP00000508067.1:n.2447-64_2447-48del
ENST00000684361.1:c.2261-64_2261-48del	ENSP00000507364.1:n.2261-64_2261-48del
ENST00000684408.1:c.1904-64_1904-48del	ENSP00000506837.1:n.1904-64_1904-48del
ENST00000684429.1:c.2189-64_2189-48del	ENSP00000507224.1:n.2189-64_2189-48del
ENST00000684464.1:c.2354-64_2354-48del	ENSP00000508333.1:n.2354-64_2354-48del
ENST00000684544.1:c.2180-64_2180-48del	ENSP00000507337.1:n.2180-64_2180-48del
ENST00000684559.1:n.1016-64_1016-48del
ENST00000684760.1:c.2528-64_2528-48del	ENSP00000507696.1:n.2528-64_2528-48del
ENST00000684776.1:c.*744-64_*744-48del	ENSP00000507861.1:n.*744-64_*744-48del
ENST00000355528.9:c.2261-64_2261-48del MANE Select	ENSP00000347719.4:n.2261-64_2261-48del
ENST00000355528.8:c.2261-64_2261-48del	ENSP00000347719.4:n.2261-64_2261-48del
ENST00000539345.6:c.2261-64_2261-48del	ENSP00000440671.2:n.2261-64_2261-48del
ENST00000571618.5:n.439-64_439-48del
ENST00000571796.5:n.919-64_919-48del
ENST00000574422.1:c.575-64_575-48del	ENSP00000458599.1:n.575-64_575-48del
ENST00000574818.5:n.319-64_319-48del
ENST00000574886.1:n.645-64_645-48del
ENST00000574975.5:c.638-64_638-48del	ENSP00000461680.1:n.638-64_638-48del
ENST00000576760.5:c.575-64_575-48del	ENSP00000460949.1:n.575-64_575-48del
NM_005993.4:c.2261-64_2261-48del	NP_005984.3:n.2261-64_2261-48del
XM_005256396.3:c.2210-64_2210-48del	XP_005256453.1:n.2210-64_2210-48del
XM_005256399.3:c.977-64_977-48del	XP_005256456.1:n.977-64_977-48del
XM_005256400.3:c.575-64_575-48del	XP_005256457.1:n.575-64_575-48del
XM_005256401.3:c.575-64_575-48del	XP_005256458.1:n.575-64_575-48del
XM_005256402.3:c.575-64_575-48del	XP_005256459.1:n.575-64_575-48del
XM_005256403.3:c.575-64_575-48del	XP_005256460.1:n.575-64_575-48del
XM_005256404.3:c.575-64_575-48del	XP_005256461.1:n.575-64_575-48del
XM_006722290.2:c.2180-64_2180-48del	XP_006722353.1:n.2180-64_2180-48del
XM_006722291.2:c.965-64_965-48del	XP_006722354.1:n.965-64_965-48del
XM_006722292.2:c.575-64_575-48del	XP_006722355.1:n.575-64_575-48del
XM_011523589.1:c.1916-64_1916-48del	XP_011521891.1:n.1916-64_1916-48del
XM_011523590.1:c.1904-64_1904-48del	XP_011521892.1:n.1904-64_1904-48del
XM_011523591.1:c.1901-64_1901-48del	XP_011521893.1:n.1901-64_1901-48del
XM_011523592.1:c.1814-64_1814-48del	XP_011521894.1:n.1814-64_1814-48del
XM_011523593.1:c.1508-64_1508-48del	XP_011521895.1:n.1508-64_1508-48del
XM_011523594.1:c.989-64_989-48del	XP_011521896.1:n.989-64_989-48del
XM_011523595.1:c.956-64_956-48del	XP_011521897.1:n.956-64_956-48del
XM_011523596.1:c.2179-64_2179-48del	XP_011521898.1:n.2179-64_2179-48del
XM_011523597.1:c.722-64_722-48del	XP_011521899.1:n.722-64_722-48del
XM_011523598.1:c.719-64_719-48del	XP_011521900.1:n.719-64_719-48del
XM_011523599.1:c.713-64_713-48del	XP_011521901.1:n.713-64_713-48del
XM_011523600.1:c.575-64_575-48del	XP_011521902.1:n.575-64_575-48del
XR_430033.2:n.2369-64_2369-48del
XM_005256396.4:c.2210-64_2210-48del	XP_005256453.1:n.2210-64_2210-48del
XM_005256399.5:c.977-64_977-48del	XP_005256456.1:n.977-64_977-48del
XM_005256404.4:c.575-64_575-48del	XP_005256461.1:n.575-64_575-48del
XM_006722291.4:c.965-64_965-48del	XP_006722354.1:n.965-64_965-48del
XM_006722292.3:c.575-64_575-48del	XP_006722355.1:n.575-64_575-48del
XM_011523589.2:c.1916-64_1916-48del	XP_011521891.1:n.1916-64_1916-48del
XM_011523591.2:c.1901-64_1901-48del	XP_011521893.1:n.1901-64_1901-48del
XM_011523593.2:c.1508-64_1508-48del	XP_011521895.1:n.1508-64_1508-48del
XM_011523594.2:c.989-64_989-48del	XP_011521896.1:n.989-64_989-48del
XM_011523595.3:c.956-64_956-48del	XP_011521897.1:n.956-64_956-48del
XM_011523597.2:c.722-64_722-48del	XP_011521899.1:n.722-64_722-48del
XM_011523599.2:c.713-64_713-48del	XP_011521901.1:n.713-64_713-48del
XM_011523600.3:c.575-64_575-48del	XP_011521902.1:n.575-64_575-48del
XM_017024987.1:c.2072-64_2072-48del	XP_016880476.1:n.2072-64_2072-48del
XM_017024989.1:c.623-64_623-48del	XP_016880478.1:n.623-64_623-48del
XM_017024990.2:c.575-64_575-48del	XP_016880479.1:n.575-64_575-48del
XM_024450899.1:c.575-64_575-48del	XP_024306667.1:n.575-64_575-48del
XM_024450900.1:c.575-64_575-48del	XP_024306668.1:n.575-64_575-48del
XM_024450901.1:c.575-64_575-48del	XP_024306669.1:n.575-64_575-48del
XM_024450902.1:c.575-64_575-48del	XP_024306670.1:n.575-64_575-48del
XR_001752597.1:n.2369-64_2369-48del
XR_001752598.1:n.2369-64_2369-48del
XR_001752599.1:n.2369-64_2369-48del
XR_001752600.1:n.2287-64_2287-48del
NM_005993.5:c.2261-64_2261-48del MANE Select	NP_005984.3:n.2261-64_2261-48del