Canonical Allele Identifier: CA640353759

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2081305
• ClinVar RCV Id: RCV002994183
• dbSNP Id: rs1206491725
• gnomAD v2: 22-50659027-T-TC
• gnomAD v3: 22-50220598-T-TC
• gnomAD v4: 22-50220598-T-TC
• MyVariant Identifiers: chr22:g.50659028_50659029insC (hg19) ; chr22:g.50659027_50659028insC (hg19) ; chr22:g.50220598_50220599insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220603dup , CM000684.2:g.50220603dup	GRCh38
NC_000022.10:g.50659032dup , CM000684.1:g.50659032dup	GRCh37
NC_000022.9:g.49001159dup	NCBI36
NG_032160.1:g.29373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3760dup MANE Select	ENSP00000248846.5:p.Glu1254GlyfsTer?
ENST00000248846.9:c.3760dup	ENSP00000248846.5:p.Glu1254GlyfsTer?
ENST00000439308.6:c.3760dup	ENSP00000397387.2:p.Glu1254GlyfsTer?
ENST00000491449.5:n.2067dup
ENST00000498611.5:n.3618-584dup
NM_020461.3:c.3760dup	NP_065194.2:p.Glu1254GlyfsTer?
XR_938347.1:n.4325dup
XR_938348.1:n.3050-584dup
XR_001755343.2:n.4329dup
XR_001755344.2:n.4329dup
XR_002958720.1:n.3054-584dup
XR_938347.2:n.4329dup
NM_020461.4:c.3760dup MANE Select	NP_065194.3:p.Glu1254GlyfsTer?