Canonical Allele Identifier: CA2612334293

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101840-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101840_8101841insTTTT , CM000673.2:g.8101840_8101841insTTTT	GRCh38
NC_000011.9:g.8123387_8123388insTTTT , CM000673.1:g.8123387_8123388insTTTT	GRCh37
NC_000011.8:g.8079963_8079964insTTTT	NCBI36
NG_029912.1:g.68208_68209insTTTT
NG_030416.2:g.72203_72204insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*221_*222insTTTT (TUB) MANE Select	ENSP00000299506.3:n.*221_*222insTTTT
ENST00000299506.2:c.*221_*222insTTTT (TUB)	ENSP00000299506.2:n.*221_*222insTTTT
ENST00000305253.8:c.*221_*222insTTTT (TUB)	ENSP00000305426.4:n.*221_*222insTTTT
NM_003320.4:c.*221_*222insTTTT (TUB)	NP_003311.2:n.*221_*222insTTTT
NM_177972.2:c.*221_*222insTTTT (TUB)	NP_813977.1:n.*221_*222insTTTT
XM_005253109.2:c.*221_*222insTTTT (TUB)	XP_005253166.1:n.*221_*222insTTTT
XM_011520344.1:c.*221_*222insTTTT (TUB)	XP_011518646.1:n.*221_*222insTTTT
XR_428851.2:n.1484-7682_1484-7681insAAAA (RIC3)
XR_930896.1:n.1546+5494_1546+5495insAAAA (RIC3)
XR_930900.1:n.1547-4119_1547-4118insAAAA (RIC3)
NR_144485.1:n.1519+5494_1519+5495insAAAA (RIC3)
XM_005253109.3:c.*221_*222insTTTT (TUB)	XP_005253166.1:n.*221_*222insTTTT
XM_011520344.2:c.*221_*222insTTTT (TUB)	XP_011518646.1:n.*221_*222insTTTT
XR_001747957.2:n.1335-7682_1335-7681insAAAA (RIC3)
XR_428851.4:n.1422-7682_1422-7681insAAAA (RIC3)
XR_930896.3:n.1484+5494_1484+5495insAAAA (RIC3)
XR_930900.3:n.1485-4119_1485-4118insAAAA (RIC3)
NM_177972.3:c.*221_*222insTTTT (TUB) MANE Select	NP_813977.1:n.*221_*222insTTTT
NR_144485.2:n.1450+5494_1450+5495insAAAA (RIC3)
NM_003320.5:c.*221_*222insTTTT (TUB)	NP_003311.2:n.*221_*222insTTTT