Canonical Allele Identifier: CA2790353727

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101832_8101842del , CM000673.2:g.8101832_8101842del GRCh38
NC_000011.9:g.8123379_8123389del , CM000673.1:g.8123379_8123389del GRCh37
NC_000011.8:g.8079955_8079965del NCBI36
NG_029912.1:g.68200_68210del
NG_030416.2:g.72203_72213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*213_*223del (TUB) MANE Select ENSP00000299506.3:n.*213_*223del
ENST00000299506.2:c.*213_*223del (TUB) ENSP00000299506.2:n.*213_*223del
ENST00000305253.8:c.*213_*223del (TUB) ENSP00000305426.4:n.*213_*223del
NM_003320.4:c.*213_*223del (TUB) NP_003311.2:n.*213_*223del
NM_177972.2:c.*213_*223del (TUB) NP_813977.1:n.*213_*223del
XM_005253109.2:c.*213_*223del (TUB) XP_005253166.1:n.*213_*223del
XM_011520344.1:c.*213_*223del (TUB) XP_011518646.1:n.*213_*223del
XR_428851.2:n.1484-7682_1484-7672del (RIC3)
XR_930896.1:n.1546+5494_1546+5504del (RIC3)
XR_930900.1:n.1547-4119_1547-4109del (RIC3)
NR_144485.1:n.1519+5494_1519+5504del (RIC3)
XM_005253109.3:c.*213_*223del (TUB) XP_005253166.1:n.*213_*223del
XM_011520344.2:c.*213_*223del (TUB) XP_011518646.1:n.*213_*223del
XR_001747957.2:n.1335-7682_1335-7672del (RIC3)
XR_428851.4:n.1422-7682_1422-7672del (RIC3)
XR_930896.3:n.1484+5494_1484+5504del (RIC3)
XR_930900.3:n.1485-4119_1485-4109del (RIC3)
NM_177972.3:c.*213_*223del (TUB) MANE Select NP_813977.1:n.*213_*223del
NR_144485.2:n.1450+5494_1450+5504del (RIC3)
NM_003320.5:c.*213_*223del (TUB) NP_003311.2:n.*213_*223del