Canonical Allele Identifier: CA2612334322

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101844-A-AAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101845_8101846insAGA , CM000673.2:g.8101845_8101846insAGA	GRCh38
NC_000011.9:g.8123392_8123393insAGA , CM000673.1:g.8123392_8123393insAGA	GRCh37
NC_000011.8:g.8079968_8079969insAGA	NCBI36
NG_029912.1:g.68213_68214insAGA
NG_030416.2:g.72199_72200insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*226_*227insAGA (TUB) MANE Select	ENSP00000299506.3:n.*226_*227insAGA
ENST00000299506.2:c.*226_*227insAGA (TUB)	ENSP00000299506.2:n.*226_*227insAGA
ENST00000305253.8:c.*226_*227insAGA (TUB)	ENSP00000305426.4:n.*226_*227insAGA
NM_003320.4:c.*226_*227insAGA (TUB)	NP_003311.2:n.*226_*227insAGA
NM_177972.2:c.*226_*227insAGA (TUB)	NP_813977.1:n.*226_*227insAGA
XM_005253109.2:c.*226_*227insAGA (TUB)	XP_005253166.1:n.*226_*227insAGA
XM_011520344.1:c.*226_*227insAGA (TUB)	XP_011518646.1:n.*226_*227insAGA
XR_428851.2:n.1484-7686_1484-7685insCTT (RIC3)
XR_930896.1:n.1546+5490_1546+5491insCTT (RIC3)
XR_930900.1:n.1547-4123_1547-4122insCTT (RIC3)
NR_144485.1:n.1519+5490_1519+5491insCTT (RIC3)
XM_005253109.3:c.*226_*227insAGA (TUB)	XP_005253166.1:n.*226_*227insAGA
XM_011520344.2:c.*226_*227insAGA (TUB)	XP_011518646.1:n.*226_*227insAGA
XR_001747957.2:n.1335-7686_1335-7685insCTT (RIC3)
XR_428851.4:n.1422-7686_1422-7685insCTT (RIC3)
XR_930896.3:n.1484+5490_1484+5491insCTT (RIC3)
XR_930900.3:n.1485-4123_1485-4122insCTT (RIC3)
NM_177972.3:c.*226_*227insAGA (TUB) MANE Select	NP_813977.1:n.*226_*227insAGA
NR_144485.2:n.1450+5490_1450+5491insCTT (RIC3)
NM_003320.5:c.*226_*227insAGA (TUB)	NP_003311.2:n.*226_*227insAGA