Canonical Allele Identifier: CA175082

Linked Data

dbSNP Id: rs727502810

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8100580_8100581del , CM000673.2:g.8100580_8100581del GRCh38
NC_000011.9:g.8122127_8122128del , CM000673.1:g.8122127_8122128del GRCh37
NC_000011.8:g.8078703_8078704del NCBI36
NG_029912.1:g.66948_66949del
NG_030416.2:g.73468_73469del

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.1194_1195del (TUB) MANE Select ENSP00000299506.3:p.Arg398SerfsTer10
ENST00000299506.2:c.1194_1195del (TUB) ENSP00000299506.2:p.Arg398SerfsTer10
ENST00000305253.8:c.1359_1360del (TUB) ENSP00000305426.4:p.Arg453SerfsTer10
ENST00000534099.5:c.1212_1213del (TUB) ENSP00000434400.1:p.Arg404SerfsTer10
NM_003320.4:c.1359_1360del (TUB) NP_003311.2:p.Arg453SerfsTer10
NM_177972.2:c.1194_1195del (TUB) NP_813977.1:p.Arg398SerfsTer10
XM_005253109.2:c.1320_1321del (TUB) XP_005253166.1:p.Arg440SerfsTer10
XM_011520344.1:c.1230_1231del (TUB) XP_011518646.1:p.Arg410SerfsTer10
XR_428851.2:n.1484-6417_1484-6416del (RIC3)
XR_930896.1:n.1547-6417_1547-6416del (RIC3)
XR_930900.1:n.1547-2854_1547-2853del (RIC3)
NR_144485.1:n.1520-6417_1520-6416del (RIC3)
XM_005253109.3:c.1320_1321del (TUB) XP_005253166.1:p.Arg440SerfsTer10
XM_011520344.2:c.1230_1231del (TUB) XP_011518646.1:p.Arg410SerfsTer10
XR_001747957.2:n.1335-6417_1335-6416del (RIC3)
XR_428851.4:n.1422-6417_1422-6416del (RIC3)
XR_930896.3:n.1485-6417_1485-6416del (RIC3)
XR_930900.3:n.1485-2854_1485-2853del (RIC3)
NM_177972.3:c.1194_1195del (TUB) MANE Select NP_813977.1:p.Arg398SerfsTer10
NR_144485.2:n.1451-6417_1451-6416del (RIC3)
NM_003320.5:c.1359_1360del (TUB) NP_003311.2:p.Arg453SerfsTer10