Canonical Allele Identifier: CA2573158238

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1457375
• ClinVar RCV Id: RCV001972630
• dbSNP Id: rs2147185386
• gnomAD v4: 22-50224511-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224512del , CM000684.2:g.50224512del	GRCh38
NC_000022.10:g.50662941del , CM000684.1:g.50662941del	GRCh37
NC_000022.9:g.49005068del	NCBI36
NG_032160.1:g.25460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248846.10:c.2064del MANE Select	ENSP00000248846.5:p.Ser688ArgfsTer22
ENST00000248846.9:c.2064del	ENSP00000248846.5:p.Ser688ArgfsTer22
ENST00000439308.6:c.2064del	ENSP00000397387.2:p.Ser688ArgfsTer22
ENST00000473946.1:n.373del
ENST00000489511.5:n.81del
ENST00000491449.5:n.371del
ENST00000498611.5:n.2597del
NM_020461.3:c.2064del	NP_065194.2:p.Ser688ArgfsTer22
XR_938347.1:n.2629del
XR_938348.1:n.2629del
XR_001755343.2:n.2633del
XR_001755344.2:n.2633del
XR_002958720.1:n.2633del
XR_938347.2:n.2633del
NM_020461.4:c.2064del MANE Select	NP_065194.3:p.Ser688ArgfsTer22