Canonical Allele Identifier: CA5871009

Gene: TUB

Linked Data

• dbSNP Id: rs747206546
• ExAC: 11:8111795 G / GC
• gnomAD v2: 11-8111795-G-GC
• gnomAD v4: 11-8090248-G-GC
• MyVariant Identifiers: chr11:g.8111795_8111796insC (hg19) ; chr11:g.8090248_8090249insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090252dup , CM000673.2:g.8090252dup	GRCh38
NC_000011.9:g.8111799dup , CM000673.1:g.8111799dup	GRCh37
NC_000011.8:g.8068375dup	NCBI36
NG_029912.1:g.56620dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.253+21dup MANE Select	ENSP00000299506.3:n.253+21dup
ENST00000299506.2:c.253+21dup	ENSP00000299506.2:n.253+21dup
ENST00000305253.8:c.418+21dup	ENSP00000305426.4:n.418+21dup
ENST00000534099.5:c.271+21dup	ENSP00000434400.1:n.271+21dup
NM_003320.4:c.418+21dup	NP_003311.2:n.418+21dup
NM_177972.2:c.253+21dup	NP_813977.1:n.253+21dup
XM_005253109.2:c.379+21dup	XP_005253166.1:n.379+21dup
XM_011520344.1:c.289+21dup	XP_011518646.1:n.289+21dup
XM_005253109.3:c.379+21dup	XP_005253166.1:n.379+21dup
XM_011520344.2:c.289+21dup	XP_011518646.1:n.289+21dup
NM_177972.3:c.253+21dup MANE Select	NP_813977.1:n.253+21dup
NM_003320.5:c.418+21dup	NP_003311.2:n.418+21dup