Canonical Allele Identifier: CA2612334644

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101897_8101898insC , CM000673.2:g.8101897_8101898insC GRCh38
NC_000011.9:g.8123444_8123445insC , CM000673.1:g.8123444_8123445insC GRCh37
NC_000011.8:g.8080020_8080021insC NCBI36
NG_029912.1:g.68265_68266insC
NG_030416.2:g.72146_72147insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*278_*279insC (TUB) MANE Select ENSP00000299506.3:n.*278_*279insC
ENST00000299506.2:c.*278_*279insC (TUB) ENSP00000299506.2:n.*278_*279insC
ENST00000305253.8:c.*278_*279insC (TUB) ENSP00000305426.4:n.*278_*279insC
NM_003320.4:c.*278_*279insC (TUB) NP_003311.2:n.*278_*279insC
NM_177972.2:c.*278_*279insC (TUB) NP_813977.1:n.*278_*279insC
XM_005253109.2:c.*278_*279insC (TUB) XP_005253166.1:n.*278_*279insC
XM_011520344.1:c.*278_*279insC (TUB) XP_011518646.1:n.*278_*279insC
XR_428851.2:n.1484-7739_1484-7738insG (RIC3)
XR_930896.1:n.1546+5437_1546+5438insG (RIC3)
XR_930900.1:n.1547-4176_1547-4175insG (RIC3)
NR_144485.1:n.1519+5437_1519+5438insG (RIC3)
XM_005253109.3:c.*278_*279insC (TUB) XP_005253166.1:n.*278_*279insC
XM_011520344.2:c.*278_*279insC (TUB) XP_011518646.1:n.*278_*279insC
XR_001747957.2:n.1335-7739_1335-7738insG (RIC3)
XR_428851.4:n.1422-7739_1422-7738insG (RIC3)
XR_930896.3:n.1484+5437_1484+5438insG (RIC3)
XR_930900.3:n.1485-4176_1485-4175insG (RIC3)
NM_177972.3:c.*278_*279insC (TUB) MANE Select NP_813977.1:n.*278_*279insC
NR_144485.2:n.1450+5437_1450+5438insG (RIC3)
NM_003320.5:c.*278_*279insC (TUB) NP_003311.2:n.*278_*279insC