Canonical Allele Identifier: CA2612334367

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101849-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101849_8101850insAA , CM000673.2:g.8101849_8101850insAA	GRCh38
NC_000011.9:g.8123396_8123397insAA , CM000673.1:g.8123396_8123397insAA	GRCh37
NC_000011.8:g.8079972_8079973insAA	NCBI36
NG_029912.1:g.68217_68218insAA
NG_030416.2:g.72194_72195insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*230_*231insAA (TUB) MANE Select	ENSP00000299506.3:n.*230_*231insAA
ENST00000299506.2:c.*230_*231insAA (TUB)	ENSP00000299506.2:n.*230_*231insAA
ENST00000305253.8:c.*230_*231insAA (TUB)	ENSP00000305426.4:n.*230_*231insAA
NM_003320.4:c.*230_*231insAA (TUB)	NP_003311.2:n.*230_*231insAA
NM_177972.2:c.*230_*231insAA (TUB)	NP_813977.1:n.*230_*231insAA
XM_005253109.2:c.*230_*231insAA (TUB)	XP_005253166.1:n.*230_*231insAA
XM_011520344.1:c.*230_*231insAA (TUB)	XP_011518646.1:n.*230_*231insAA
XR_428851.2:n.1484-7691_1484-7690insTT (RIC3)
XR_930896.1:n.1546+5485_1546+5486insTT (RIC3)
XR_930900.1:n.1547-4128_1547-4127insTT (RIC3)
NR_144485.1:n.1519+5485_1519+5486insTT (RIC3)
XM_005253109.3:c.*230_*231insAA (TUB)	XP_005253166.1:n.*230_*231insAA
XM_011520344.2:c.*230_*231insAA (TUB)	XP_011518646.1:n.*230_*231insAA
XR_001747957.2:n.1335-7691_1335-7690insTT (RIC3)
XR_428851.4:n.1422-7691_1422-7690insTT (RIC3)
XR_930896.3:n.1484+5485_1484+5486insTT (RIC3)
XR_930900.3:n.1485-4128_1485-4127insTT (RIC3)
NM_177972.3:c.*230_*231insAA (TUB) MANE Select	NP_813977.1:n.*230_*231insAA
NR_144485.2:n.1450+5485_1450+5486insTT (RIC3)
NM_003320.5:c.*230_*231insAA (TUB)	NP_003311.2:n.*230_*231insAA