Canonical Allele Identifier: CA2612334335

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101849_8101852del , CM000673.2:g.8101849_8101852del GRCh38
NC_000011.9:g.8123396_8123399del , CM000673.1:g.8123396_8123399del GRCh37
NC_000011.8:g.8079972_8079975del NCBI36
NG_029912.1:g.68217_68220del
NG_030416.2:g.72195_72198del

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*230_*233del (TUB) MANE Select ENSP00000299506.3:n.*230_*233del
ENST00000299506.2:c.*230_*233del (TUB) ENSP00000299506.2:n.*230_*233del
ENST00000305253.8:c.*230_*233del (TUB) ENSP00000305426.4:n.*230_*233del
NM_003320.4:c.*230_*233del (TUB) NP_003311.2:n.*230_*233del
NM_177972.2:c.*230_*233del (TUB) NP_813977.1:n.*230_*233del
XM_005253109.2:c.*230_*233del (TUB) XP_005253166.1:n.*230_*233del
XM_011520344.1:c.*230_*233del (TUB) XP_011518646.1:n.*230_*233del
XR_428851.2:n.1484-7690_1484-7687del (RIC3)
XR_930896.1:n.1546+5486_1546+5489del (RIC3)
XR_930900.1:n.1547-4127_1547-4124del (RIC3)
NR_144485.1:n.1519+5486_1519+5489del (RIC3)
XM_005253109.3:c.*230_*233del (TUB) XP_005253166.1:n.*230_*233del
XM_011520344.2:c.*230_*233del (TUB) XP_011518646.1:n.*230_*233del
XR_001747957.2:n.1335-7690_1335-7687del (RIC3)
XR_428851.4:n.1422-7690_1422-7687del (RIC3)
XR_930896.3:n.1484+5486_1484+5489del (RIC3)
XR_930900.3:n.1485-4127_1485-4124del (RIC3)
NM_177972.3:c.*230_*233del (TUB) MANE Select NP_813977.1:n.*230_*233del
NR_144485.2:n.1450+5486_1450+5489del (RIC3)
NM_003320.5:c.*230_*233del (TUB) NP_003311.2:n.*230_*233del