Canonical Allele Identifier: CA2612334234

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101835-G-GCTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101835_8101836insCTTTT , CM000673.2:g.8101835_8101836insCTTTT	GRCh38
NC_000011.9:g.8123382_8123383insCTTTT , CM000673.1:g.8123382_8123383insCTTTT	GRCh37
NC_000011.8:g.8079958_8079959insCTTTT	NCBI36
NG_029912.1:g.68203_68204insCTTTT
NG_030416.2:g.72208_72209insAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*216_*217insCTTTT (TUB) MANE Select	ENSP00000299506.3:n.*216_*217insCTTTT
ENST00000299506.2:c.*216_*217insCTTTT (TUB)	ENSP00000299506.2:n.*216_*217insCTTTT
ENST00000305253.8:c.*216_*217insCTTTT (TUB)	ENSP00000305426.4:n.*216_*217insCTTTT
NM_003320.4:c.*216_*217insCTTTT (TUB)	NP_003311.2:n.*216_*217insCTTTT
NM_177972.2:c.*216_*217insCTTTT (TUB)	NP_813977.1:n.*216_*217insCTTTT
XM_005253109.2:c.*216_*217insCTTTT (TUB)	XP_005253166.1:n.*216_*217insCTTTT
XM_011520344.1:c.*216_*217insCTTTT (TUB)	XP_011518646.1:n.*216_*217insCTTTT
XR_428851.2:n.1484-7677_1484-7676insAAAAG (RIC3)
XR_930896.1:n.1546+5499_1546+5500insAAAAG (RIC3)
XR_930900.1:n.1547-4114_1547-4113insAAAAG (RIC3)
NR_144485.1:n.1519+5499_1519+5500insAAAAG (RIC3)
XM_005253109.3:c.*216_*217insCTTTT (TUB)	XP_005253166.1:n.*216_*217insCTTTT
XM_011520344.2:c.*216_*217insCTTTT (TUB)	XP_011518646.1:n.*216_*217insCTTTT
XR_001747957.2:n.1335-7677_1335-7676insAAAAG (RIC3)
XR_428851.4:n.1422-7677_1422-7676insAAAAG (RIC3)
XR_930896.3:n.1484+5499_1484+5500insAAAAG (RIC3)
XR_930900.3:n.1485-4114_1485-4113insAAAAG (RIC3)
NM_177972.3:c.*216_*217insCTTTT (TUB) MANE Select	NP_813977.1:n.*216_*217insCTTTT
NR_144485.2:n.1450+5499_1450+5500insAAAAG (RIC3)
NM_003320.5:c.*216_*217insCTTTT (TUB)	NP_003311.2:n.*216_*217insCTTTT