Canonical Allele Identifier: CA2612334746

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101936-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101937_8101938del , CM000673.2:g.8101937_8101938del	GRCh38
NC_000011.9:g.8123484_8123485del , CM000673.1:g.8123484_8123485del	GRCh37
NC_000011.8:g.8080060_8080061del	NCBI36
NG_029912.1:g.68305_68306del
NG_030416.2:g.72106_72107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*318_*319del (TUB) MANE Select	ENSP00000299506.3:n.*318_*319del
ENST00000299506.2:c.*318_*319del (TUB)	ENSP00000299506.2:n.*318_*319del
ENST00000305253.8:c.*318_*319del (TUB)	ENSP00000305426.4:n.*318_*319del
NM_003320.4:c.*318_*319del (TUB)	NP_003311.2:n.*318_*319del
NM_177972.2:c.*318_*319del (TUB)	NP_813977.1:n.*318_*319del
XM_005253109.2:c.*318_*319del (TUB)	XP_005253166.1:n.*318_*319del
XM_011520344.1:c.*318_*319del (TUB)	XP_011518646.1:n.*318_*319del
XR_428851.2:n.1484-7779_1484-7778del (RIC3)
XR_930896.1:n.1546+5397_1546+5398del (RIC3)
XR_930900.1:n.1547-4216_1547-4215del (RIC3)
NR_144485.1:n.1519+5397_1519+5398del (RIC3)
XM_005253109.3:c.*318_*319del (TUB)	XP_005253166.1:n.*318_*319del
XM_011520344.2:c.*318_*319del (TUB)	XP_011518646.1:n.*318_*319del
XR_001747957.2:n.1335-7779_1335-7778del (RIC3)
XR_428851.4:n.1422-7779_1422-7778del (RIC3)
XR_930896.3:n.1484+5397_1484+5398del (RIC3)
XR_930900.3:n.1485-4216_1485-4215del (RIC3)
NM_177972.3:c.*318_*319del (TUB) MANE Select	NP_813977.1:n.*318_*319del
NR_144485.2:n.1450+5397_1450+5398del (RIC3)
NM_003320.5:c.*318_*319del (TUB)	NP_003311.2:n.*318_*319del