Canonical Allele Identifier: CA2612333991

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101754-CCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101763_8101766del , CM000673.2:g.8101763_8101766del	GRCh38
NC_000011.9:g.8123310_8123313del , CM000673.1:g.8123310_8123313del	GRCh37
NC_000011.8:g.8079886_8079889del	NCBI36
NG_029912.1:g.68131_68134del
NG_030416.2:g.72286_72289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*144_*147del (TUB) MANE Select	ENSP00000299506.3:n.*144_*147del
ENST00000299506.2:c.*144_*147del (TUB)	ENSP00000299506.2:n.*144_*147del
ENST00000305253.8:c.*144_*147del (TUB)	ENSP00000305426.4:n.*144_*147del
ENST00000534099.5:c.*144_*147del (TUB)	ENSP00000434400.1:n.*144_*147del
NM_003320.4:c.*144_*147del (TUB)	NP_003311.2:n.*144_*147del
NM_177972.2:c.*144_*147del (TUB)	NP_813977.1:n.*144_*147del
XM_005253109.2:c.*144_*147del (TUB)	XP_005253166.1:n.*144_*147del
XM_011520344.1:c.*144_*147del (TUB)	XP_011518646.1:n.*144_*147del
XR_428851.2:n.1484-7599_1484-7596del (RIC3)
XR_930896.1:n.1546+5577_1546+5580del (RIC3)
XR_930900.1:n.1547-4036_1547-4033del (RIC3)
NR_144485.1:n.1519+5577_1519+5580del (RIC3)
XM_005253109.3:c.*144_*147del (TUB)	XP_005253166.1:n.*144_*147del
XM_011520344.2:c.*144_*147del (TUB)	XP_011518646.1:n.*144_*147del
XR_001747957.2:n.1335-7599_1335-7596del (RIC3)
XR_428851.4:n.1422-7599_1422-7596del (RIC3)
XR_930896.3:n.1484+5577_1484+5580del (RIC3)
XR_930900.3:n.1485-4036_1485-4033del (RIC3)
NM_177972.3:c.*144_*147del (TUB) MANE Select	NP_813977.1:n.*144_*147del
NR_144485.2:n.1450+5577_1450+5580del (RIC3)
NM_003320.5:c.*144_*147del (TUB)	NP_003311.2:n.*144_*147del