Canonical Allele Identifier: CA1950968372

Linked Data

dbSNP Id: rs1944324748

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101904_8101906del , CM000673.2:g.8101904_8101906del GRCh38
NC_000011.9:g.8123451_8123453del , CM000673.1:g.8123451_8123453del GRCh37
NC_000011.8:g.8080027_8080029del NCBI36
NG_029912.1:g.68272_68274del
NG_030416.2:g.72140_72142del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*285_*287del (TUB) MANE Select ENSP00000299506.3:n.*285_*287del
ENST00000299506.2:c.*285_*287del (TUB) ENSP00000299506.2:n.*285_*287del
ENST00000305253.8:c.*285_*287del (TUB) ENSP00000305426.4:n.*285_*287del
NM_003320.4:c.*285_*287del (TUB) NP_003311.2:n.*285_*287del
NM_177972.2:c.*285_*287del (TUB) NP_813977.1:n.*285_*287del
XM_005253109.2:c.*285_*287del (TUB) XP_005253166.1:n.*285_*287del
XM_011520344.1:c.*285_*287del (TUB) XP_011518646.1:n.*285_*287del
XR_428851.2:n.1484-7745_1484-7743del (RIC3)
XR_930896.1:n.1546+5431_1546+5433del (RIC3)
XR_930900.1:n.1547-4182_1547-4180del (RIC3)
NR_144485.1:n.1519+5431_1519+5433del (RIC3)
XM_005253109.3:c.*285_*287del (TUB) XP_005253166.1:n.*285_*287del
XM_011520344.2:c.*285_*287del (TUB) XP_011518646.1:n.*285_*287del
XR_001747957.2:n.1335-7745_1335-7743del (RIC3)
XR_428851.4:n.1422-7745_1422-7743del (RIC3)
XR_930896.3:n.1484+5431_1484+5433del (RIC3)
XR_930900.3:n.1485-4182_1485-4180del (RIC3)
NM_177972.3:c.*285_*287del (TUB) MANE Select NP_813977.1:n.*285_*287del
NR_144485.2:n.1450+5431_1450+5433del (RIC3)
NM_003320.5:c.*285_*287del (TUB) NP_003311.2:n.*285_*287del