Canonical Allele Identifier: CA2612334171

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101831_8101834del , CM000673.2:g.8101831_8101834del GRCh38
NC_000011.9:g.8123378_8123381del , CM000673.1:g.8123378_8123381del GRCh37
NC_000011.8:g.8079954_8079957del NCBI36
NG_029912.1:g.68199_68202del
NG_030416.2:g.72211_72214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*212_*215del (TUB) MANE Select ENSP00000299506.3:n.*212_*215del
ENST00000299506.2:c.*212_*215del (TUB) ENSP00000299506.2:n.*212_*215del
ENST00000305253.8:c.*212_*215del (TUB) ENSP00000305426.4:n.*212_*215del
NM_003320.4:c.*212_*215del (TUB) NP_003311.2:n.*212_*215del
NM_177972.2:c.*212_*215del (TUB) NP_813977.1:n.*212_*215del
XM_005253109.2:c.*212_*215del (TUB) XP_005253166.1:n.*212_*215del
XM_011520344.1:c.*212_*215del (TUB) XP_011518646.1:n.*212_*215del
XR_428851.2:n.1484-7674_1484-7671del (RIC3)
XR_930896.1:n.1546+5502_1546+5505del (RIC3)
XR_930900.1:n.1547-4111_1547-4108del (RIC3)
NR_144485.1:n.1519+5502_1519+5505del (RIC3)
XM_005253109.3:c.*212_*215del (TUB) XP_005253166.1:n.*212_*215del
XM_011520344.2:c.*212_*215del (TUB) XP_011518646.1:n.*212_*215del
XR_001747957.2:n.1335-7674_1335-7671del (RIC3)
XR_428851.4:n.1422-7674_1422-7671del (RIC3)
XR_930896.3:n.1484+5502_1484+5505del (RIC3)
XR_930900.3:n.1485-4111_1485-4108del (RIC3)
NM_177972.3:c.*212_*215del (TUB) MANE Select NP_813977.1:n.*212_*215del
NR_144485.2:n.1450+5502_1450+5505del (RIC3)
NM_003320.5:c.*212_*215del (TUB) NP_003311.2:n.*212_*215del