Canonical Allele Identifier: CA597326496

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs727502810
• gnomAD v2: 11-8122121-TGAGA-T
• gnomAD v4: 11-8100574-TGAGA-T
• MyVariant Identifiers: chr11:g.8122122_8122125del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8100578_8100581del , CM000673.2:g.8100578_8100581del	GRCh38
NC_000011.9:g.8122125_8122128del , CM000673.1:g.8122125_8122128del	GRCh37
NC_000011.8:g.8078701_8078704del	NCBI36
NG_029912.1:g.66946_66949del
NG_030416.2:g.73466_73469del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.1192_1195del (TUB) MANE Select	ENSP00000299506.3:p.Arg398SerfsTer13
ENST00000299506.2:c.1192_1195del (TUB)	ENSP00000299506.2:p.Arg398SerfsTer13
ENST00000305253.8:c.1357_1360del (TUB)	ENSP00000305426.4:p.Arg453SerfsTer13
ENST00000534099.5:c.1210_1213del (TUB)	ENSP00000434400.1:p.Arg404SerfsTer13
NM_003320.4:c.1357_1360del (TUB)	NP_003311.2:p.Arg453SerfsTer13
NM_177972.2:c.1192_1195del (TUB)	NP_813977.1:p.Arg398SerfsTer13
XM_005253109.2:c.1318_1321del (TUB)	XP_005253166.1:p.Arg440SerfsTer13
XM_011520344.1:c.1228_1231del (TUB)	XP_011518646.1:p.Arg410SerfsTer13
XR_428851.2:n.1484-6419_1484-6416del (RIC3)
XR_930896.1:n.1547-6419_1547-6416del (RIC3)
XR_930900.1:n.1547-2856_1547-2853del (RIC3)
NR_144485.1:n.1520-6419_1520-6416del (RIC3)
XM_005253109.3:c.1318_1321del (TUB)	XP_005253166.1:p.Arg440SerfsTer13
XM_011520344.2:c.1228_1231del (TUB)	XP_011518646.1:p.Arg410SerfsTer13
XR_001747957.2:n.1335-6419_1335-6416del (RIC3)
XR_428851.4:n.1422-6419_1422-6416del (RIC3)
XR_930896.3:n.1485-6419_1485-6416del (RIC3)
XR_930900.3:n.1485-2856_1485-2853del (RIC3)
NM_177972.3:c.1192_1195del (TUB) MANE Select	NP_813977.1:p.Arg398SerfsTer13
NR_144485.2:n.1451-6419_1451-6416del (RIC3)
NM_003320.5:c.1357_1360del (TUB)	NP_003311.2:p.Arg453SerfsTer13