Canonical Allele Identifier: CA1950967901

Linked Data

dbSNP Id: rs1944307957

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101578_8101583dup , CM000673.2:g.8101578_8101583dup GRCh38
NC_000011.9:g.8123125_8123130dup , CM000673.1:g.8123125_8123130dup GRCh37
NC_000011.8:g.8079701_8079706dup NCBI36
NG_029912.1:g.67946_67951dup
NG_030416.2:g.72466_72471dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.1480_1485dup (TUB) MANE Select ENSP00000299506.3:p.Ala495_Leu496insIleAla
ENST00000299506.2:c.1480_1485dup (TUB) ENSP00000299506.2:p.Ala495_Leu496insIleAla
ENST00000305253.8:c.1645_1650dup (TUB) ENSP00000305426.4:p.Ala550_Leu551insIleAla
ENST00000534099.5:c.1498_1503dup (TUB) ENSP00000434400.1:p.Ala501_Leu502insIleAla
NM_003320.4:c.1645_1650dup (TUB) NP_003311.2:p.Ala550_Leu551insIleAla
NM_177972.2:c.1480_1485dup (TUB) NP_813977.1:p.Ala495_Leu496insIleAla
XM_005253109.2:c.1606_1611dup (TUB) XP_005253166.1:p.Ala537_Leu538insIleAla
XM_011520344.1:c.1516_1521dup (TUB) XP_011518646.1:p.Ala507_Leu508insIleAla
XR_428851.2:n.1484-7419_1484-7414dup (RIC3)
XR_930896.1:n.1546+5757_1546+5762dup (RIC3)
XR_930900.1:n.1547-3856_1547-3851dup (RIC3)
NR_144485.1:n.1519+5757_1519+5762dup (RIC3)
XM_005253109.3:c.1606_1611dup (TUB) XP_005253166.1:p.Ala537_Leu538insIleAla
XM_011520344.2:c.1516_1521dup (TUB) XP_011518646.1:p.Ala507_Leu508insIleAla
XR_001747957.2:n.1335-7419_1335-7414dup (RIC3)
XR_428851.4:n.1422-7419_1422-7414dup (RIC3)
XR_930896.3:n.1484+5757_1484+5762dup (RIC3)
XR_930900.3:n.1485-3856_1485-3851dup (RIC3)
NM_177972.3:c.1480_1485dup (TUB) MANE Select NP_813977.1:p.Ala495_Leu496insIleAla
NR_144485.2:n.1450+5757_1450+5762dup (RIC3)
NM_003320.5:c.1645_1650dup (TUB) NP_003311.2:p.Ala550_Leu551insIleAla