Canonical Allele Identifier: CA2279278014

Gene: TBCD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82924864_82924876delinsTGGGGCACACGTC , CM000679.2:g.82924864_82924876delinsTGGGGCACACGTC	GRCh38
NC_000017.10:g.80882740_80882752delinsTGGGGCACACGTC , CM000679.1:g.80882740_80882752delinsTGGGGCACACGTC	GRCh37
NC_000017.9:g.78476029_78476041delinsTGGGGCACACGTC	NCBI36
NG_011721.1:g.177801_177813delinsTGGGGCACACGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1469-75_1469-63delinsTGGGGCACACGTC
ENST00000576677.6:n.1390-75_1390-63delinsTGGGGCACACGTC
ENST00000681983.1:n.2397-75_2397-63delinsTGGGGCACACGTC
ENST00000682099.1:n.1158-75_1158-63delinsTGGGGCACACGTC
ENST00000682213.1:c.*232-75_*232-63delinsTGGGGCACACGTC	ENSP00000508166.1:n.*232-75_*232-63delinsTGGGGCACACGTC
ENST00000682315.1:c.575-75_575-63delinsTGGGGCACACGTC	ENSP00000507232.1:n.575-75_575-63delinsTGGGGCACACGTC
ENST00000682479.1:c.2351-75_2351-63delinsTGGGGCACACGTC	ENSP00000508214.1:n.2351-75_2351-63delinsTGGGGCACACGTC
ENST00000682610.1:n.1501-75_1501-63delinsTGGGGCACACGTC
ENST00000682654.1:c.*232-75_*232-63delinsTGGGGCACACGTC	ENSP00000507412.1:n.*232-75_*232-63delinsTGGGGCACACGTC
ENST00000682722.1:c.2210-75_2210-63delinsTGGGGCACACGTC	ENSP00000508364.1:n.2210-75_2210-63delinsTGGGGCACACGTC
ENST00000683041.1:c.*232-75_*232-63delinsTGGGGCACACGTC	ENSP00000506994.1:n.*232-75_*232-63delinsTGGGGCACACGTC
ENST00000683184.1:c.*1914-75_*1914-63delinsTGGGGCACACGTC	ENSP00000507757.1:n.*1914-75_*1914-63delinsTGGGGCACACGTC
ENST00000683282.1:c.2177-75_2177-63delinsTGGGGCACACGTC	ENSP00000506913.1:n.2177-75_2177-63delinsTGGGGCACACGTC
ENST00000683444.1:c.*1838-75_*1838-63delinsTGGGGCACACGTC	ENSP00000507553.1:n.*1838-75_*1838-63delinsTGGGGCACACGTC
ENST00000683584.1:n.1084-75_1084-63delinsTGGGGCACACGTC
ENST00000683821.1:c.575-75_575-63delinsTGGGGCACACGTC	ENSP00000507651.1:n.575-75_575-63delinsTGGGGCACACGTC
ENST00000683839.1:n.1715-75_1715-63delinsTGGGGCACACGTC
ENST00000684000.1:c.2345-75_2345-63delinsTGGGGCACACGTC	ENSP00000506795.1:n.2345-75_2345-63delinsTGGGGCACACGTC
ENST00000684188.1:c.2072-75_2072-63delinsTGGGGCACACGTC	ENSP00000507153.1:n.2072-75_2072-63delinsTGGGGCACACGTC
ENST00000684349.1:c.2447-75_2447-63delinsTGGGGCACACGTC	ENSP00000508067.1:n.2447-75_2447-63delinsTGGGGCACACGTC
ENST00000684361.1:c.2261-75_2261-63delinsTGGGGCACACGTC	ENSP00000507364.1:n.2261-75_2261-63delinsTGGGGCACACGTC
ENST00000684408.1:c.1904-75_1904-63delinsTGGGGCACACGTC	ENSP00000506837.1:n.1904-75_1904-63delinsTGGGGCACACGTC
ENST00000684429.1:c.2189-75_2189-63delinsTGGGGCACACGTC	ENSP00000507224.1:n.2189-75_2189-63delinsTGGGGCACACGTC
ENST00000684464.1:c.2354-75_2354-63delinsTGGGGCACACGTC	ENSP00000508333.1:n.2354-75_2354-63delinsTGGGGCACACGTC
ENST00000684544.1:c.2180-75_2180-63delinsTGGGGCACACGTC	ENSP00000507337.1:n.2180-75_2180-63delinsTGGGGCACACGTC
ENST00000684559.1:n.1016-75_1016-63delinsTGGGGCACACGTC
ENST00000684760.1:c.2528-75_2528-63delinsTGGGGCACACGTC	ENSP00000507696.1:n.2528-75_2528-63delinsTGGGGCACACGTC
ENST00000684776.1:c.*744-75_*744-63delinsTGGGGCACACGTC	ENSP00000507861.1:n.*744-75_*744-63delinsTGGGGCACACGTC
ENST00000355528.9:c.2261-75_2261-63delinsTGGGGCACACGTC MANE Select	ENSP00000347719.4:n.2261-75_2261-63delinsTGGGGCACACGTC
ENST00000355528.8:c.2261-75_2261-63delinsTGGGGCACACGTC	ENSP00000347719.4:n.2261-75_2261-63delinsTGGGGCACACGTC
ENST00000539345.6:c.2261-75_2261-63delinsTGGGGCACACGTC	ENSP00000440671.2:n.2261-75_2261-63delinsTGGGGCACACGTC
ENST00000571618.5:n.439-75_439-63delinsTGGGGCACACGTC
ENST00000571796.5:n.919-75_919-63delinsTGGGGCACACGTC
ENST00000574422.1:c.575-75_575-63delinsTGGGGCACACGTC	ENSP00000458599.1:n.575-75_575-63delinsTGGGGCACACGTC
ENST00000574818.5:n.319-75_319-63delinsTGGGGCACACGTC
ENST00000574886.1:n.645-75_645-63delinsTGGGGCACACGTC
ENST00000574975.5:c.638-75_638-63delinsTGGGGCACACGTC	ENSP00000461680.1:n.638-75_638-63delinsTGGGGCACACGTC
ENST00000576760.5:c.575-75_575-63delinsTGGGGCACACGTC	ENSP00000460949.1:n.575-75_575-63delinsTGGGGCACACGTC
NM_005993.4:c.2261-75_2261-63delinsTGGGGCACACGTC	NP_005984.3:n.2261-75_2261-63delinsTGGGGCACACGTC
XM_005256396.3:c.2210-75_2210-63delinsTGGGGCACACGTC	XP_005256453.1:n.2210-75_2210-63delinsTGGGGCACACGTC
XM_005256399.3:c.977-75_977-63delinsTGGGGCACACGTC	XP_005256456.1:n.977-75_977-63delinsTGGGGCACACGTC
XM_005256400.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256457.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_005256401.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256458.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_005256402.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256459.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_005256403.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256460.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_005256404.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256461.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_006722290.2:c.2180-75_2180-63delinsTGGGGCACACGTC	XP_006722353.1:n.2180-75_2180-63delinsTGGGGCACACGTC
XM_006722291.2:c.965-75_965-63delinsTGGGGCACACGTC	XP_006722354.1:n.965-75_965-63delinsTGGGGCACACGTC
XM_006722292.2:c.575-75_575-63delinsTGGGGCACACGTC	XP_006722355.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_011523589.1:c.1916-75_1916-63delinsTGGGGCACACGTC	XP_011521891.1:n.1916-75_1916-63delinsTGGGGCACACGTC
XM_011523590.1:c.1904-75_1904-63delinsTGGGGCACACGTC	XP_011521892.1:n.1904-75_1904-63delinsTGGGGCACACGTC
XM_011523591.1:c.1901-75_1901-63delinsTGGGGCACACGTC	XP_011521893.1:n.1901-75_1901-63delinsTGGGGCACACGTC
XM_011523592.1:c.1814-75_1814-63delinsTGGGGCACACGTC	XP_011521894.1:n.1814-75_1814-63delinsTGGGGCACACGTC
XM_011523593.1:c.1508-75_1508-63delinsTGGGGCACACGTC	XP_011521895.1:n.1508-75_1508-63delinsTGGGGCACACGTC
XM_011523594.1:c.989-75_989-63delinsTGGGGCACACGTC	XP_011521896.1:n.989-75_989-63delinsTGGGGCACACGTC
XM_011523595.1:c.956-75_956-63delinsTGGGGCACACGTC	XP_011521897.1:n.956-75_956-63delinsTGGGGCACACGTC
XM_011523596.1:c.2179-75_2179-63delinsTGGGGCACACGTC	XP_011521898.1:n.2179-75_2179-63delinsTGGGGCACACGTC
XM_011523597.1:c.722-75_722-63delinsTGGGGCACACGTC	XP_011521899.1:n.722-75_722-63delinsTGGGGCACACGTC
XM_011523598.1:c.719-75_719-63delinsTGGGGCACACGTC	XP_011521900.1:n.719-75_719-63delinsTGGGGCACACGTC
XM_011523599.1:c.713-75_713-63delinsTGGGGCACACGTC	XP_011521901.1:n.713-75_713-63delinsTGGGGCACACGTC
XM_011523600.1:c.575-75_575-63delinsTGGGGCACACGTC	XP_011521902.1:n.575-75_575-63delinsTGGGGCACACGTC
XR_430033.2:n.2369-75_2369-63delinsTGGGGCACACGTC
XM_005256396.4:c.2210-75_2210-63delinsTGGGGCACACGTC	XP_005256453.1:n.2210-75_2210-63delinsTGGGGCACACGTC
XM_005256399.5:c.977-75_977-63delinsTGGGGCACACGTC	XP_005256456.1:n.977-75_977-63delinsTGGGGCACACGTC
XM_005256404.4:c.575-75_575-63delinsTGGGGCACACGTC	XP_005256461.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_006722291.4:c.965-75_965-63delinsTGGGGCACACGTC	XP_006722354.1:n.965-75_965-63delinsTGGGGCACACGTC
XM_006722292.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_006722355.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_011523589.2:c.1916-75_1916-63delinsTGGGGCACACGTC	XP_011521891.1:n.1916-75_1916-63delinsTGGGGCACACGTC
XM_011523591.2:c.1901-75_1901-63delinsTGGGGCACACGTC	XP_011521893.1:n.1901-75_1901-63delinsTGGGGCACACGTC
XM_011523593.2:c.1508-75_1508-63delinsTGGGGCACACGTC	XP_011521895.1:n.1508-75_1508-63delinsTGGGGCACACGTC
XM_011523594.2:c.989-75_989-63delinsTGGGGCACACGTC	XP_011521896.1:n.989-75_989-63delinsTGGGGCACACGTC
XM_011523595.3:c.956-75_956-63delinsTGGGGCACACGTC	XP_011521897.1:n.956-75_956-63delinsTGGGGCACACGTC
XM_011523597.2:c.722-75_722-63delinsTGGGGCACACGTC	XP_011521899.1:n.722-75_722-63delinsTGGGGCACACGTC
XM_011523599.2:c.713-75_713-63delinsTGGGGCACACGTC	XP_011521901.1:n.713-75_713-63delinsTGGGGCACACGTC
XM_011523600.3:c.575-75_575-63delinsTGGGGCACACGTC	XP_011521902.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_017024987.1:c.2072-75_2072-63delinsTGGGGCACACGTC	XP_016880476.1:n.2072-75_2072-63delinsTGGGGCACACGTC
XM_017024989.1:c.623-75_623-63delinsTGGGGCACACGTC	XP_016880478.1:n.623-75_623-63delinsTGGGGCACACGTC
XM_017024990.2:c.575-75_575-63delinsTGGGGCACACGTC	XP_016880479.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_024450899.1:c.575-75_575-63delinsTGGGGCACACGTC	XP_024306667.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_024450900.1:c.575-75_575-63delinsTGGGGCACACGTC	XP_024306668.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_024450901.1:c.575-75_575-63delinsTGGGGCACACGTC	XP_024306669.1:n.575-75_575-63delinsTGGGGCACACGTC
XM_024450902.1:c.575-75_575-63delinsTGGGGCACACGTC	XP_024306670.1:n.575-75_575-63delinsTGGGGCACACGTC
XR_001752597.1:n.2369-75_2369-63delinsTGGGGCACACGTC
XR_001752598.1:n.2369-75_2369-63delinsTGGGGCACACGTC
XR_001752599.1:n.2369-75_2369-63delinsTGGGGCACACGTC
XR_001752600.1:n.2287-75_2287-63delinsTGGGGCACACGTC
NM_005993.5:c.2261-75_2261-63delinsTGGGGCACACGTC MANE Select	NP_005984.3:n.2261-75_2261-63delinsTGGGGCACACGTC