Canonical Allele Identifier: CA2790353724

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101825_8101826del , CM000673.2:g.8101825_8101826del GRCh38
NC_000011.9:g.8123372_8123373del , CM000673.1:g.8123372_8123373del GRCh37
NC_000011.8:g.8079948_8079949del NCBI36
NG_029912.1:g.68193_68194del
NG_030416.2:g.72219_72220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*206_*207del (TUB) MANE Select ENSP00000299506.3:n.*206_*207del
ENST00000299506.2:c.*206_*207del (TUB) ENSP00000299506.2:n.*206_*207del
ENST00000305253.8:c.*206_*207del (TUB) ENSP00000305426.4:n.*206_*207del
NM_003320.4:c.*206_*207del (TUB) NP_003311.2:n.*206_*207del
NM_177972.2:c.*206_*207del (TUB) NP_813977.1:n.*206_*207del
XM_005253109.2:c.*206_*207del (TUB) XP_005253166.1:n.*206_*207del
XM_011520344.1:c.*206_*207del (TUB) XP_011518646.1:n.*206_*207del
XR_428851.2:n.1484-7666_1484-7665del (RIC3)
XR_930896.1:n.1546+5510_1546+5511del (RIC3)
XR_930900.1:n.1547-4103_1547-4102del (RIC3)
NR_144485.1:n.1519+5510_1519+5511del (RIC3)
XM_005253109.3:c.*206_*207del (TUB) XP_005253166.1:n.*206_*207del
XM_011520344.2:c.*206_*207del (TUB) XP_011518646.1:n.*206_*207del
XR_001747957.2:n.1335-7666_1335-7665del (RIC3)
XR_428851.4:n.1422-7666_1422-7665del (RIC3)
XR_930896.3:n.1484+5510_1484+5511del (RIC3)
XR_930900.3:n.1485-4103_1485-4102del (RIC3)
NM_177972.3:c.*206_*207del (TUB) MANE Select NP_813977.1:n.*206_*207del
NR_144485.2:n.1450+5510_1450+5511del (RIC3)
NM_003320.5:c.*206_*207del (TUB) NP_003311.2:n.*206_*207del