Canonical Allele Identifier: CA2573158256

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1503870
• ClinVar RCV Id: RCV002045538
• dbSNP Id: rs2064510442
• gnomAD v4: 22-50220927-A-AACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220951_50221031dup , CM000684.2:g.50220951_50221031dup	GRCh38
NC_000022.10:g.50659380_50659460dup , CM000684.1:g.50659380_50659460dup	GRCh37
NC_000022.9:g.49001507_49001587dup	NCBI36
NG_032160.1:g.28964_29044dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3351_3431dup MANE Select	ENSP00000248846.5:p.Val1144_Gly1145insGlyGluAsnValSerAspValAl...
ENST00000248846.9:c.3351_3431dup	ENSP00000248846.5:p.Val1144_Gly1145insGlyGluAsnValSerAspValAl...
ENST00000439308.6:c.3351_3431dup	ENSP00000397387.2:p.Val1144_Gly1145insGlyGluAsnValSerAspValAl...
ENST00000491449.5:n.1658_1738dup
ENST00000498611.5:n.3617+267_3617+347dup
NM_020461.3:c.3351_3431dup	NP_065194.2:p.Val1144_Gly1145insGlyGluAsnValSerAspValAlaProTh...
XR_938347.1:n.3916_3996dup
XR_938348.1:n.3050-993_3050-913dup
XR_001755343.2:n.3920_4000dup
XR_001755344.2:n.3920_4000dup
XR_002958720.1:n.3054-993_3054-913dup
XR_938347.2:n.3920_4000dup
NM_020461.4:c.3351_3431dup MANE Select	NP_065194.3:p.Val1144_Gly1145insGlyGluAsnValSerAspValAlaProTh...