Canonical Allele Identifier: CA934892935

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1944314589
• gnomAD v3: 11-8101675-CCTGT-C
• gnomAD v4: 11-8101675-CCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101676_8101679del , CM000673.2:g.8101676_8101679del	GRCh38
NC_000011.9:g.8123223_8123226del , CM000673.1:g.8123223_8123226del	GRCh37
NC_000011.8:g.8079799_8079802del	NCBI36
NG_029912.1:g.68044_68047del
NG_030416.2:g.72365_72368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*57_*60del (TUB) MANE Select	ENSP00000299506.3:n.*57_*60del
ENST00000299506.2:c.*57_*60del (TUB)	ENSP00000299506.2:n.*57_*60del
ENST00000305253.8:c.*57_*60del (TUB)	ENSP00000305426.4:n.*57_*60del
ENST00000534099.5:c.*57_*60del (TUB)	ENSP00000434400.1:n.*57_*60del
NM_003320.4:c.*57_*60del (TUB)	NP_003311.2:n.*57_*60del
NM_177972.2:c.*57_*60del (TUB)	NP_813977.1:n.*57_*60del
XM_005253109.2:c.*57_*60del (TUB)	XP_005253166.1:n.*57_*60del
XM_011520344.1:c.*57_*60del (TUB)	XP_011518646.1:n.*57_*60del
XR_428851.2:n.1484-7520_1484-7517del (RIC3)
XR_930896.1:n.1546+5656_1546+5659del (RIC3)
XR_930900.1:n.1547-3957_1547-3954del (RIC3)
NR_144485.1:n.1519+5656_1519+5659del (RIC3)
XM_005253109.3:c.*57_*60del (TUB)	XP_005253166.1:n.*57_*60del
XM_011520344.2:c.*57_*60del (TUB)	XP_011518646.1:n.*57_*60del
XR_001747957.2:n.1335-7520_1335-7517del (RIC3)
XR_428851.4:n.1422-7520_1422-7517del (RIC3)
XR_930896.3:n.1484+5656_1484+5659del (RIC3)
XR_930900.3:n.1485-3957_1485-3954del (RIC3)
NM_177972.3:c.*57_*60del (TUB) MANE Select	NP_813977.1:n.*57_*60del
NR_144485.2:n.1450+5656_1450+5659del (RIC3)
NM_003320.5:c.*57_*60del (TUB)	NP_003311.2:n.*57_*60del