Canonical Allele Identifier: CA2612334283

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101839_8101840insTT , CM000673.2:g.8101839_8101840insTT GRCh38
NC_000011.9:g.8123386_8123387insTT , CM000673.1:g.8123386_8123387insTT GRCh37
NC_000011.8:g.8079962_8079963insTT NCBI36
NG_029912.1:g.68207_68208insTT
NG_030416.2:g.72204_72205insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*220_*221insTT (TUB) MANE Select ENSP00000299506.3:n.*220_*221insTT
ENST00000299506.2:c.*220_*221insTT (TUB) ENSP00000299506.2:n.*220_*221insTT
ENST00000305253.8:c.*220_*221insTT (TUB) ENSP00000305426.4:n.*220_*221insTT
NM_003320.4:c.*220_*221insTT (TUB) NP_003311.2:n.*220_*221insTT
NM_177972.2:c.*220_*221insTT (TUB) NP_813977.1:n.*220_*221insTT
XM_005253109.2:c.*220_*221insTT (TUB) XP_005253166.1:n.*220_*221insTT
XM_011520344.1:c.*220_*221insTT (TUB) XP_011518646.1:n.*220_*221insTT
XR_428851.2:n.1484-7681_1484-7680insAA (RIC3)
XR_930896.1:n.1546+5495_1546+5496insAA (RIC3)
XR_930900.1:n.1547-4118_1547-4117insAA (RIC3)
NR_144485.1:n.1519+5495_1519+5496insAA (RIC3)
XM_005253109.3:c.*220_*221insTT (TUB) XP_005253166.1:n.*220_*221insTT
XM_011520344.2:c.*220_*221insTT (TUB) XP_011518646.1:n.*220_*221insTT
XR_001747957.2:n.1335-7681_1335-7680insAA (RIC3)
XR_428851.4:n.1422-7681_1422-7680insAA (RIC3)
XR_930896.3:n.1484+5495_1484+5496insAA (RIC3)
XR_930900.3:n.1485-4118_1485-4117insAA (RIC3)
NM_177972.3:c.*220_*221insTT (TUB) MANE Select NP_813977.1:n.*220_*221insTT
NR_144485.2:n.1450+5495_1450+5496insAA (RIC3)
NM_003320.5:c.*220_*221insTT (TUB) NP_003311.2:n.*220_*221insTT