Canonical Allele Identifier: CA2410730361

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 941525
• ClinVar RCV Id: RCV001211319
• dbSNP Id: rs2064500789

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220558_50220559dup , CM000684.2:g.50220558_50220559dup	GRCh38
NC_000022.10:g.50658987_50658988dup , CM000684.1:g.50658987_50658988dup	GRCh37
NC_000022.9:g.49001114_49001115dup	NCBI36
NG_032160.1:g.29415_29416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3802_3803dup MANE Select	ENSP00000248846.5:p.His1269ProfsTer?
ENST00000248846.9:c.3802_3803dup	ENSP00000248846.5:p.His1269ProfsTer?
ENST00000439308.6:c.3802_3803dup	ENSP00000397387.2:p.His1269ProfsTer?
ENST00000491449.5:n.2109_2110dup
ENST00000498611.5:n.3618-542_3618-541dup
NM_020461.3:c.3802_3803dup	NP_065194.2:p.His1269ProfsTer?
XR_938347.1:n.4367_4368dup
XR_938348.1:n.3050-542_3050-541dup
XR_001755343.2:n.4371_4372dup
XR_001755344.2:n.4371_4372dup
XR_002958720.1:n.3054-542_3054-541dup
XR_938347.2:n.4371_4372dup
NM_020461.4:c.3802_3803dup MANE Select	NP_065194.3:p.His1269ProfsTer?