Canonical Allele Identifier: CA2612334102

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101812_8101813insGAGT , CM000673.2:g.8101812_8101813insGAGT GRCh38
NC_000011.9:g.8123359_8123360insGAGT , CM000673.1:g.8123359_8123360insGAGT GRCh37
NC_000011.8:g.8079935_8079936insGAGT NCBI36
NG_029912.1:g.68180_68181insGAGT
NG_030416.2:g.72231_72232insACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*193_*194insGAGT (TUB) MANE Select ENSP00000299506.3:n.*193_*194insGAGT
ENST00000299506.2:c.*193_*194insGAGT (TUB) ENSP00000299506.2:n.*193_*194insGAGT
ENST00000305253.8:c.*193_*194insGAGT (TUB) ENSP00000305426.4:n.*193_*194insGAGT
NM_003320.4:c.*193_*194insGAGT (TUB) NP_003311.2:n.*193_*194insGAGT
NM_177972.2:c.*193_*194insGAGT (TUB) NP_813977.1:n.*193_*194insGAGT
XM_005253109.2:c.*193_*194insGAGT (TUB) XP_005253166.1:n.*193_*194insGAGT
XM_011520344.1:c.*193_*194insGAGT (TUB) XP_011518646.1:n.*193_*194insGAGT
XR_428851.2:n.1484-7654_1484-7653insACTC (RIC3)
XR_930896.1:n.1546+5522_1546+5523insACTC (RIC3)
XR_930900.1:n.1547-4091_1547-4090insACTC (RIC3)
NR_144485.1:n.1519+5522_1519+5523insACTC (RIC3)
XM_005253109.3:c.*193_*194insGAGT (TUB) XP_005253166.1:n.*193_*194insGAGT
XM_011520344.2:c.*193_*194insGAGT (TUB) XP_011518646.1:n.*193_*194insGAGT
XR_001747957.2:n.1335-7654_1335-7653insACTC (RIC3)
XR_428851.4:n.1422-7654_1422-7653insACTC (RIC3)
XR_930896.3:n.1484+5522_1484+5523insACTC (RIC3)
XR_930900.3:n.1485-4091_1485-4090insACTC (RIC3)
NM_177972.3:c.*193_*194insGAGT (TUB) MANE Select NP_813977.1:n.*193_*194insGAGT
NR_144485.2:n.1450+5522_1450+5523insACTC (RIC3)
NM_003320.5:c.*193_*194insGAGT (TUB) NP_003311.2:n.*193_*194insGAGT