Canonical Allele Identifier: CA2612334191

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101831-AAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101833_8101836del , CM000673.2:g.8101833_8101836del	GRCh38
NC_000011.9:g.8123380_8123383del , CM000673.1:g.8123380_8123383del	GRCh37
NC_000011.8:g.8079956_8079959del	NCBI36
NG_029912.1:g.68201_68204del
NG_030416.2:g.72209_72212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*214_*217del (TUB) MANE Select	ENSP00000299506.3:n.*214_*217del
ENST00000299506.2:c.*214_*217del (TUB)	ENSP00000299506.2:n.*214_*217del
ENST00000305253.8:c.*214_*217del (TUB)	ENSP00000305426.4:n.*214_*217del
NM_003320.4:c.*214_*217del (TUB)	NP_003311.2:n.*214_*217del
NM_177972.2:c.*214_*217del (TUB)	NP_813977.1:n.*214_*217del
XM_005253109.2:c.*214_*217del (TUB)	XP_005253166.1:n.*214_*217del
XM_011520344.1:c.*214_*217del (TUB)	XP_011518646.1:n.*214_*217del
XR_428851.2:n.1484-7676_1484-7673del (RIC3)
XR_930896.1:n.1546+5500_1546+5503del (RIC3)
XR_930900.1:n.1547-4113_1547-4110del (RIC3)
NR_144485.1:n.1519+5500_1519+5503del (RIC3)
XM_005253109.3:c.*214_*217del (TUB)	XP_005253166.1:n.*214_*217del
XM_011520344.2:c.*214_*217del (TUB)	XP_011518646.1:n.*214_*217del
XR_001747957.2:n.1335-7676_1335-7673del (RIC3)
XR_428851.4:n.1422-7676_1422-7673del (RIC3)
XR_930896.3:n.1484+5500_1484+5503del (RIC3)
XR_930900.3:n.1485-4113_1485-4110del (RIC3)
NM_177972.3:c.*214_*217del (TUB) MANE Select	NP_813977.1:n.*214_*217del
NR_144485.2:n.1450+5500_1450+5503del (RIC3)
NM_003320.5:c.*214_*217del (TUB)	NP_003311.2:n.*214_*217del