Canonical Allele Identifier: CA640354102

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1294887106
• gnomAD v2: 22-50662944-C-CA
• gnomAD v3: 22-50224515-C-CA
• gnomAD v4: 22-50224515-C-CA
• MyVariant Identifiers: chr22:g.50662944_50662945insA (hg19) ; chr22:g.50224515_50224516insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224516dup , CM000684.2:g.50224516dup	GRCh38
NC_000022.10:g.50662945dup , CM000684.1:g.50662945dup	GRCh37
NC_000022.9:g.49005072dup	NCBI36
NG_032160.1:g.25456dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2060dup MANE Select	ENSP00000248846.5:p.Ser688GlufsTer2
ENST00000248846.9:c.2060dup	ENSP00000248846.5:p.Ser688GlufsTer2
ENST00000439308.6:c.2060dup	ENSP00000397387.2:p.Ser688GlufsTer2
ENST00000473946.1:n.369dup
ENST00000489511.5:n.77dup
ENST00000491449.5:n.367dup
ENST00000498611.5:n.2593dup
NM_020461.3:c.2060dup	NP_065194.2:p.Ser688GlufsTer2
XR_938347.1:n.2625dup
XR_938348.1:n.2625dup
XR_001755343.2:n.2629dup
XR_001755344.2:n.2629dup
XR_002958720.1:n.2629dup
XR_938347.2:n.2629dup
NM_020461.4:c.2060dup MANE Select	NP_065194.3:p.Ser688GlufsTer2