Canonical Allele Identifier: CA2612334345

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101846-T-TGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101846_8101847insGAC , CM000673.2:g.8101846_8101847insGAC	GRCh38
NC_000011.9:g.8123393_8123394insGAC , CM000673.1:g.8123393_8123394insGAC	GRCh37
NC_000011.8:g.8079969_8079970insGAC	NCBI36
NG_029912.1:g.68214_68215insGAC
NG_030416.2:g.72197_72198insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*227_*228insGAC (TUB) MANE Select	ENSP00000299506.3:n.*227_*228insGAC
ENST00000299506.2:c.*227_*228insGAC (TUB)	ENSP00000299506.2:n.*227_*228insGAC
ENST00000305253.8:c.*227_*228insGAC (TUB)	ENSP00000305426.4:n.*227_*228insGAC
NM_003320.4:c.*227_*228insGAC (TUB)	NP_003311.2:n.*227_*228insGAC
NM_177972.2:c.*227_*228insGAC (TUB)	NP_813977.1:n.*227_*228insGAC
XM_005253109.2:c.*227_*228insGAC (TUB)	XP_005253166.1:n.*227_*228insGAC
XM_011520344.1:c.*227_*228insGAC (TUB)	XP_011518646.1:n.*227_*228insGAC
XR_428851.2:n.1484-7688_1484-7687insGTC (RIC3)
XR_930896.1:n.1546+5488_1546+5489insGTC (RIC3)
XR_930900.1:n.1547-4125_1547-4124insGTC (RIC3)
NR_144485.1:n.1519+5488_1519+5489insGTC (RIC3)
XM_005253109.3:c.*227_*228insGAC (TUB)	XP_005253166.1:n.*227_*228insGAC
XM_011520344.2:c.*227_*228insGAC (TUB)	XP_011518646.1:n.*227_*228insGAC
XR_001747957.2:n.1335-7688_1335-7687insGTC (RIC3)
XR_428851.4:n.1422-7688_1422-7687insGTC (RIC3)
XR_930896.3:n.1484+5488_1484+5489insGTC (RIC3)
XR_930900.3:n.1485-4125_1485-4124insGTC (RIC3)
NM_177972.3:c.*227_*228insGAC (TUB) MANE Select	NP_813977.1:n.*227_*228insGAC
NR_144485.2:n.1450+5488_1450+5489insGTC (RIC3)
NM_003320.5:c.*227_*228insGAC (TUB)	NP_003311.2:n.*227_*228insGAC