Canonical Allele Identifier: CA2612334400

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101851-T-TAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101851_8101852insAATG , CM000673.2:g.8101851_8101852insAATG	GRCh38
NC_000011.9:g.8123398_8123399insAATG , CM000673.1:g.8123398_8123399insAATG	GRCh37
NC_000011.8:g.8079974_8079975insAATG	NCBI36
NG_029912.1:g.68219_68220insAATG
NG_030416.2:g.72192_72193insCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*232_*233insAATG (TUB) MANE Select	ENSP00000299506.3:n.*232_*233insAATG
ENST00000299506.2:c.*232_*233insAATG (TUB)	ENSP00000299506.2:n.*232_*233insAATG
ENST00000305253.8:c.*232_*233insAATG (TUB)	ENSP00000305426.4:n.*232_*233insAATG
NM_003320.4:c.*232_*233insAATG (TUB)	NP_003311.2:n.*232_*233insAATG
NM_177972.2:c.*232_*233insAATG (TUB)	NP_813977.1:n.*232_*233insAATG
XM_005253109.2:c.*232_*233insAATG (TUB)	XP_005253166.1:n.*232_*233insAATG
XM_011520344.1:c.*232_*233insAATG (TUB)	XP_011518646.1:n.*232_*233insAATG
XR_428851.2:n.1484-7693_1484-7692insCATT (RIC3)
XR_930896.1:n.1546+5483_1546+5484insCATT (RIC3)
XR_930900.1:n.1547-4130_1547-4129insCATT (RIC3)
NR_144485.1:n.1519+5483_1519+5484insCATT (RIC3)
XM_005253109.3:c.*232_*233insAATG (TUB)	XP_005253166.1:n.*232_*233insAATG
XM_011520344.2:c.*232_*233insAATG (TUB)	XP_011518646.1:n.*232_*233insAATG
XR_001747957.2:n.1335-7693_1335-7692insCATT (RIC3)
XR_428851.4:n.1422-7693_1422-7692insCATT (RIC3)
XR_930896.3:n.1484+5483_1484+5484insCATT (RIC3)
XR_930900.3:n.1485-4130_1485-4129insCATT (RIC3)
NM_177972.3:c.*232_*233insAATG (TUB) MANE Select	NP_813977.1:n.*232_*233insAATG
NR_144485.2:n.1450+5483_1450+5484insCATT (RIC3)
NM_003320.5:c.*232_*233insAATG (TUB)	NP_003311.2:n.*232_*233insAATG