Canonical Allele Identifier: CA597322323

Gene: TUB

Linked Data

• dbSNP Id: rs1421872553
• gnomAD v2: 11-8110963-T-TC
• gnomAD v3: 11-8089416-T-TC
• gnomAD v4: 11-8089416-T-TC
• MyVariant Identifiers: chr11:g.8110963_8110964insC (hg19) ; chr11:g.8089416_8089417insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089417dup , CM000673.2:g.8089417dup	GRCh38
NC_000011.9:g.8110964dup , CM000673.1:g.8110964dup	GRCh37
NC_000011.8:g.8067540dup	NCBI36
NG_029912.1:g.55785dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.39-193dup MANE Select	ENSP00000299506.3:n.39-193dup
ENST00000299506.2:c.39-193dup	ENSP00000299506.2:n.39-193dup
ENST00000305253.8:c.204-193dup	ENSP00000305426.4:n.204-193dup
ENST00000534099.5:c.57-193dup	ENSP00000434400.1:n.57-193dup
NM_003320.4:c.204-193dup	NP_003311.2:n.204-193dup
NM_177972.2:c.39-193dup	NP_813977.1:n.39-193dup
XM_005253109.2:c.165-193dup	XP_005253166.1:n.165-193dup
XM_011520344.1:c.75-193dup	XP_011518646.1:n.75-193dup
XM_005253109.3:c.165-193dup	XP_005253166.1:n.165-193dup
XM_011520344.2:c.75-193dup	XP_011518646.1:n.75-193dup
NM_177972.3:c.39-193dup MANE Select	NP_813977.1:n.39-193dup
NM_003320.5:c.204-193dup	NP_003311.2:n.204-193dup