Canonical Allele Identifier: CA754042220

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1629124
• ClinVar RCV Id: RCV002116487
• dbSNP Id: rs1405953594
• gnomAD v3: 22-50224434-G-GT
• gnomAD v4: 22-50224434-G-GT
• MyVariant Identifiers: chr22:g.50662863_50662864insT (hg19) ; chr22:g.50224434_50224435insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224435dup , CM000684.2:g.50224435dup	GRCh38
NC_000022.10:g.50662864dup , CM000684.1:g.50662864dup	GRCh37
NC_000022.9:g.49004991dup	NCBI36
NG_032160.1:g.25537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2066-15dup MANE Select	ENSP00000248846.5:n.2066-15dup
ENST00000248846.9:c.2066-15dup	ENSP00000248846.5:n.2066-15dup
ENST00000439308.6:c.2066-15dup	ENSP00000397387.2:n.2066-15dup
ENST00000473946.1:n.375-15dup
ENST00000489511.5:n.83-15dup
ENST00000491449.5:n.373-15dup
ENST00000498611.5:n.2599-15dup
NM_020461.3:c.2066-15dup	NP_065194.2:n.2066-15dup
XR_938347.1:n.2631-15dup
XR_938348.1:n.2631-15dup
XR_001755343.2:n.2635-15dup
XR_001755344.2:n.2635-15dup
XR_002958720.1:n.2635-15dup
XR_938347.2:n.2635-15dup
NM_020461.4:c.2066-15dup MANE Select	NP_065194.3:n.2066-15dup