Canonical Allele Identifier: CA2612334211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101834_8101835del , CM000673.2:g.8101834_8101835del GRCh38
NC_000011.9:g.8123381_8123382del , CM000673.1:g.8123381_8123382del GRCh37
NC_000011.8:g.8079957_8079958del NCBI36
NG_029912.1:g.68202_68203del
NG_030416.2:g.72210_72211del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*215_*216del (TUB) MANE Select ENSP00000299506.3:n.*215_*216del
ENST00000299506.2:c.*215_*216del (TUB) ENSP00000299506.2:n.*215_*216del
ENST00000305253.8:c.*215_*216del (TUB) ENSP00000305426.4:n.*215_*216del
NM_003320.4:c.*215_*216del (TUB) NP_003311.2:n.*215_*216del
NM_177972.2:c.*215_*216del (TUB) NP_813977.1:n.*215_*216del
XM_005253109.2:c.*215_*216del (TUB) XP_005253166.1:n.*215_*216del
XM_011520344.1:c.*215_*216del (TUB) XP_011518646.1:n.*215_*216del
XR_428851.2:n.1484-7675_1484-7674del (RIC3)
XR_930896.1:n.1546+5501_1546+5502del (RIC3)
XR_930900.1:n.1547-4112_1547-4111del (RIC3)
NR_144485.1:n.1519+5501_1519+5502del (RIC3)
XM_005253109.3:c.*215_*216del (TUB) XP_005253166.1:n.*215_*216del
XM_011520344.2:c.*215_*216del (TUB) XP_011518646.1:n.*215_*216del
XR_001747957.2:n.1335-7675_1335-7674del (RIC3)
XR_428851.4:n.1422-7675_1422-7674del (RIC3)
XR_930896.3:n.1484+5501_1484+5502del (RIC3)
XR_930900.3:n.1485-4112_1485-4111del (RIC3)
NM_177972.3:c.*215_*216del (TUB) MANE Select NP_813977.1:n.*215_*216del
NR_144485.2:n.1450+5501_1450+5502del (RIC3)
NM_003320.5:c.*215_*216del (TUB) NP_003311.2:n.*215_*216del