Canonical Allele Identifier: CA217431003

Linked Data

dbSNP Id: rs909157539

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101905_8101910del , CM000673.2:g.8101905_8101910del GRCh38
NC_000011.9:g.8123452_8123457del , CM000673.1:g.8123452_8123457del GRCh37
NC_000011.8:g.8080028_8080033del NCBI36
NG_029912.1:g.68273_68278del
NG_030416.2:g.72137_72142del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*286_*291del (TUB) MANE Select ENSP00000299506.3:n.*286_*291del
ENST00000299506.2:c.*286_*291del (TUB) ENSP00000299506.2:n.*286_*291del
ENST00000305253.8:c.*286_*291del (TUB) ENSP00000305426.4:n.*286_*291del
NM_003320.4:c.*286_*291del (TUB) NP_003311.2:n.*286_*291del
NM_177972.2:c.*286_*291del (TUB) NP_813977.1:n.*286_*291del
XM_005253109.2:c.*286_*291del (TUB) XP_005253166.1:n.*286_*291del
XM_011520344.1:c.*286_*291del (TUB) XP_011518646.1:n.*286_*291del
XR_428851.2:n.1484-7748_1484-7743del (RIC3)
XR_930896.1:n.1546+5428_1546+5433del (RIC3)
XR_930900.1:n.1547-4185_1547-4180del (RIC3)
NR_144485.1:n.1519+5428_1519+5433del (RIC3)
XM_005253109.3:c.*286_*291del (TUB) XP_005253166.1:n.*286_*291del
XM_011520344.2:c.*286_*291del (TUB) XP_011518646.1:n.*286_*291del
XR_001747957.2:n.1335-7748_1335-7743del (RIC3)
XR_428851.4:n.1422-7748_1422-7743del (RIC3)
XR_930896.3:n.1484+5428_1484+5433del (RIC3)
XR_930900.3:n.1485-4185_1485-4180del (RIC3)
NM_177972.3:c.*286_*291del (TUB) MANE Select NP_813977.1:n.*286_*291del
NR_144485.2:n.1450+5428_1450+5433del (RIC3)
NM_003320.5:c.*286_*291del (TUB) NP_003311.2:n.*286_*291del