Canonical Allele Identifier: CA2640720174

Gene: TBCD

Linked Data

• gnomAD v4: 17-82925172-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82925177del , CM000679.2:g.82925177del	GRCh38
NC_000017.10:g.80883053del , CM000679.1:g.80883053del	GRCh37
NC_000017.9:g.78476342del	NCBI36
NG_011721.1:g.178114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574886.2:n.1587+120del
ENST00000576677.6:n.1508+120del
ENST00000681983.1:n.2515+120del
ENST00000682099.1:n.1276+120del
ENST00000682213.1:c.*350+120del	ENSP00000508166.1:n.*350+120del
ENST00000682315.1:c.693+120del	ENSP00000507232.1:n.693+120del
ENST00000682479.1:c.2469+120del	ENSP00000508214.1:n.2469+120del
ENST00000682610.1:n.1619+120del
ENST00000682654.1:c.*350+120del	ENSP00000507412.1:n.*350+120del
ENST00000682722.1:c.2328+120del	ENSP00000508364.1:n.2328+120del
ENST00000683041.1:c.*350+120del	ENSP00000506994.1:n.*350+120del
ENST00000683184.1:c.*2032+120del	ENSP00000507757.1:n.*2032+120del
ENST00000683282.1:c.2295+120del	ENSP00000506913.1:n.2295+120del
ENST00000683444.1:c.*1956+120del	ENSP00000507553.1:n.*1956+120del
ENST00000683584.1:n.1202+120del
ENST00000683821.1:c.693+120del	ENSP00000507651.1:n.693+120del
ENST00000683839.1:n.1833+120del
ENST00000684000.1:c.2463+120del	ENSP00000506795.1:n.2463+120del
ENST00000684188.1:c.2190+120del	ENSP00000507153.1:n.2190+120del
ENST00000684349.1:c.2565+120del	ENSP00000508067.1:n.2565+120del
ENST00000684361.1:c.2379+120del	ENSP00000507364.1:n.2379+120del
ENST00000684408.1:c.2022+120del	ENSP00000506837.1:n.2022+120del
ENST00000684429.1:c.2307+120del	ENSP00000507224.1:n.2307+120del
ENST00000684464.1:c.2472+120del	ENSP00000508333.1:n.2472+120del
ENST00000684544.1:c.2298+120del	ENSP00000507337.1:n.2298+120del
ENST00000684559.1:n.1134+120del
ENST00000684760.1:c.2646+120del	ENSP00000507696.1:n.2646+120del
ENST00000684776.1:c.*862+120del	ENSP00000507861.1:n.*862+120del
ENST00000355528.9:c.2379+120del MANE Select	ENSP00000347719.4:n.2379+120del
ENST00000355528.8:c.2379+120del	ENSP00000347719.4:n.2379+120del
ENST00000539345.6:c.2379+120del	ENSP00000440671.2:n.2379+120del
ENST00000571618.5:n.557+120del
ENST00000571796.5:n.1037+120del
ENST00000574422.1:c.693+120del	ENSP00000458599.1:n.693+120del
ENST00000574818.5:n.437+120del
ENST00000574886.1:n.763+120del
ENST00000576760.5:c.693+120del	ENSP00000460949.1:n.693+120del
NM_005993.4:c.2379+120del	NP_005984.3:n.2379+120del
XM_005256396.3:c.2328+120del	XP_005256453.1:n.2328+120del
XM_005256399.3:c.1095+120del	XP_005256456.1:n.1095+120del
XM_005256400.3:c.693+120del	XP_005256457.1:n.693+120del
XM_005256401.3:c.693+120del	XP_005256458.1:n.693+120del
XM_005256402.3:c.693+120del	XP_005256459.1:n.693+120del
XM_005256403.3:c.693+120del	XP_005256460.1:n.693+120del
XM_005256404.3:c.693+120del	XP_005256461.1:n.693+120del
XM_006722290.2:c.2298+120del	XP_006722353.1:n.2298+120del
XM_006722291.2:c.1083+120del	XP_006722354.1:n.1083+120del
XM_006722292.2:c.693+120del	XP_006722355.1:n.693+120del
XM_011523589.1:c.2034+120del	XP_011521891.1:n.2034+120del
XM_011523590.1:c.2022+120del	XP_011521892.1:n.2022+120del
XM_011523591.1:c.2019+120del	XP_011521893.1:n.2019+120del
XM_011523592.1:c.1932+120del	XP_011521894.1:n.1932+120del
XM_011523593.1:c.1626+120del	XP_011521895.1:n.1626+120del
XM_011523594.1:c.1107+120del	XP_011521896.1:n.1107+120del
XM_011523595.1:c.1074+120del	XP_011521897.1:n.1074+120del
XM_011523597.1:c.840+120del	XP_011521899.1:n.840+120del
XM_011523598.1:c.837+120del	XP_011521900.1:n.837+120del
XM_011523599.1:c.831+120del	XP_011521901.1:n.831+120del
XM_011523600.1:c.693+120del	XP_011521902.1:n.693+120del
XR_430033.2:n.2487+120del
XM_005256396.4:c.2328+120del	XP_005256453.1:n.2328+120del
XM_005256399.5:c.1095+120del	XP_005256456.1:n.1095+120del
XM_005256404.4:c.693+120del	XP_005256461.1:n.693+120del
XM_006722291.4:c.1083+120del	XP_006722354.1:n.1083+120del
XM_006722292.3:c.693+120del	XP_006722355.1:n.693+120del
XM_011523589.2:c.2034+120del	XP_011521891.1:n.2034+120del
XM_011523591.2:c.2019+120del	XP_011521893.1:n.2019+120del
XM_011523593.2:c.1626+120del	XP_011521895.1:n.1626+120del
XM_011523594.2:c.1107+120del	XP_011521896.1:n.1107+120del
XM_011523595.3:c.1074+120del	XP_011521897.1:n.1074+120del
XM_011523597.2:c.840+120del	XP_011521899.1:n.840+120del
XM_011523599.2:c.831+120del	XP_011521901.1:n.831+120del
XM_011523600.3:c.693+120del	XP_011521902.1:n.693+120del
XM_017024987.1:c.2190+120del	XP_016880476.1:n.2190+120del
XM_017024989.1:c.741+120del	XP_016880478.1:n.741+120del
XM_017024990.2:c.693+120del	XP_016880479.1:n.693+120del
XM_024450899.1:c.693+120del	XP_024306667.1:n.693+120del
XM_024450900.1:c.693+120del	XP_024306668.1:n.693+120del
XM_024450901.1:c.693+120del	XP_024306669.1:n.693+120del
XM_024450902.1:c.693+120del	XP_024306670.1:n.693+120del
XR_001752597.1:n.2487+120del
XR_001752598.1:n.2487+120del
XR_001752599.1:n.2487+120del
XR_001752600.1:n.2405+120del
NM_005993.5:c.2379+120del MANE Select	NP_005984.3:n.2379+120del