Canonical Allele Identifier: CA2580100106

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2023464
• ClinVar RCV Id: RCV002875859

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221263_50221268dup , CM000684.2:g.50221263_50221268dup	GRCh38
NC_000022.10:g.50659692_50659697dup , CM000684.1:g.50659692_50659697dup	GRCh37
NC_000022.9:g.49001819_49001824dup	NCBI36
NG_032160.1:g.28706_28711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3093_3098dup MANE Select	ENSP00000248846.5:p.Gly1033_Leu1034insGlyGly
ENST00000248846.9:c.3093_3098dup	ENSP00000248846.5:p.Gly1033_Leu1034insGlyGly
ENST00000439308.6:c.3093_3098dup	ENSP00000397387.2:p.Gly1033_Leu1034insGlyGly
ENST00000491449.5:n.1400_1405dup
ENST00000498611.5:n.3617+9_3617+14dup
NM_020461.3:c.3093_3098dup	NP_065194.2:p.Gly1033_Leu1034insGlyGly
XR_938347.1:n.3658_3663dup
XR_938348.1:n.3049+762_3049+767dup
XR_001755343.2:n.3662_3667dup
XR_001755344.2:n.3662_3667dup
XR_002958720.1:n.3053+762_3053+767dup
XR_938347.2:n.3662_3667dup
NM_020461.4:c.3093_3098dup MANE Select	NP_065194.3:p.Gly1033_Leu1034insGlyGly