Canonical Allele Identifier: CA2574746068

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101718_8101719del , CM000673.2:g.8101718_8101719del GRCh38
NC_000011.9:g.8123265_8123266del , CM000673.1:g.8123265_8123266del GRCh37
NC_000011.8:g.8079841_8079842del NCBI36
NG_029912.1:g.68086_68087del
NG_030416.2:g.72326_72327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*99_*100del (TUB) MANE Select ENSP00000299506.3:n.*99_*100del
ENST00000299506.2:c.*99_*100del (TUB) ENSP00000299506.2:n.*99_*100del
ENST00000305253.8:c.*99_*100del (TUB) ENSP00000305426.4:n.*99_*100del
ENST00000534099.5:c.*99_*100del (TUB) ENSP00000434400.1:n.*99_*100del
NM_003320.4:c.*99_*100del (TUB) NP_003311.2:n.*99_*100del
NM_177972.2:c.*99_*100del (TUB) NP_813977.1:n.*99_*100del
XM_005253109.2:c.*99_*100del (TUB) XP_005253166.1:n.*99_*100del
XM_011520344.1:c.*99_*100del (TUB) XP_011518646.1:n.*99_*100del
XR_428851.2:n.1484-7559_1484-7558del (RIC3)
XR_930896.1:n.1546+5617_1546+5618del (RIC3)
XR_930900.1:n.1547-3996_1547-3995del (RIC3)
NR_144485.1:n.1519+5617_1519+5618del (RIC3)
XM_005253109.3:c.*99_*100del (TUB) XP_005253166.1:n.*99_*100del
XM_011520344.2:c.*99_*100del (TUB) XP_011518646.1:n.*99_*100del
XR_001747957.2:n.1335-7559_1335-7558del (RIC3)
XR_428851.4:n.1422-7559_1422-7558del (RIC3)
XR_930896.3:n.1484+5617_1484+5618del (RIC3)
XR_930900.3:n.1485-3996_1485-3995del (RIC3)
NM_177972.3:c.*99_*100del (TUB) MANE Select NP_813977.1:n.*99_*100del
NR_144485.2:n.1450+5617_1450+5618del (RIC3)
NM_003320.5:c.*99_*100del (TUB) NP_003311.2:n.*99_*100del