Canonical Allele Identifier: CA2580084024
Gene: TUB HGNC NCBI

Linked Data

ClinVar Variation Id: 2109714
ClinVar RCV Id: RCV003020064

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089592_8089594del , CM000673.2:g.8089592_8089594del GRCh38
NC_000011.9:g.8111139_8111141del , CM000673.1:g.8111139_8111141del GRCh37
NC_000011.8:g.8067715_8067717del NCBI36
NG_029912.1:g.55960_55962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.39-18_39-16del MANE Select ENSP00000299506.3:n.39-18_39-16del
ENST00000299506.2:c.39-18_39-16del ENSP00000299506.2:n.39-18_39-16del
ENST00000305253.8:c.204-18_204-16del ENSP00000305426.4:n.204-18_204-16del
ENST00000534099.5:c.57-18_57-16del ENSP00000434400.1:n.57-18_57-16del
NM_003320.4:c.204-18_204-16del NP_003311.2:n.204-18_204-16del
NM_177972.2:c.39-18_39-16del NP_813977.1:n.39-18_39-16del
XM_005253109.2:c.165-18_165-16del XP_005253166.1:n.165-18_165-16del
XM_011520344.1:c.75-18_75-16del XP_011518646.1:n.75-18_75-16del
XM_005253109.3:c.165-18_165-16del XP_005253166.1:n.165-18_165-16del
XM_011520344.2:c.75-18_75-16del XP_011518646.1:n.75-18_75-16del
NM_177972.3:c.39-18_39-16del MANE Select NP_813977.1:n.39-18_39-16del
NM_003320.5:c.204-18_204-16del NP_003311.2:n.204-18_204-16del