Canonical Allele Identifier: CA2410730286

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064498019
• gnomAD v4: 22-50220420-A-AGTGCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220427_50220433dup , CM000684.2:g.50220427_50220433dup	GRCh38
NC_000022.10:g.50658856_50658862dup , CM000684.1:g.50658856_50658862dup	GRCh37
NC_000022.9:g.49000983_49000989dup	NCBI36
NG_032160.1:g.29545_29551dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3932_3938dup MANE Select	ENSP00000248846.5:p.Val1314GlufsTer?
ENST00000248846.9:c.3932_3938dup	ENSP00000248846.5:p.Val1314GlufsTer?
ENST00000439308.6:c.3932_3938dup	ENSP00000397387.2:p.Val1314GlufsTer?
ENST00000491449.5:n.2239_2245dup
ENST00000498611.5:n.3618-412_3618-406dup
NM_020461.3:c.3932_3938dup	NP_065194.2:p.Val1314GlufsTer?
XR_938347.1:n.4497_4503dup
XR_938348.1:n.3050-412_3050-406dup
XR_001755343.2:n.4501_4507dup
XR_001755344.2:n.4501_4507dup
XR_002958720.1:n.3054-412_3054-406dup
XR_938347.2:n.4501_4507dup
NM_020461.4:c.3932_3938dup MANE Select	NP_065194.3:p.Val1314GlufsTer?