Canonical Allele Identifier: CA2577760419

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220429-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220430dup , CM000684.2:g.50220430dup	GRCh38
NC_000022.10:g.50658859dup , CM000684.1:g.50658859dup	GRCh37
NC_000022.9:g.49000986dup	NCBI36
NG_032160.1:g.29542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3929dup MANE Select	ENSP00000248846.5:p.Gln1311ThrfsTer?
ENST00000248846.9:c.3929dup	ENSP00000248846.5:p.Gln1311ThrfsTer?
ENST00000439308.6:c.3929dup	ENSP00000397387.2:p.Gln1311ThrfsTer?
ENST00000491449.5:n.2236dup
ENST00000498611.5:n.3618-415dup
NM_020461.3:c.3929dup	NP_065194.2:p.Gln1311ThrfsTer?
XR_938347.1:n.4494dup
XR_938348.1:n.3050-415dup
XR_001755343.2:n.4498dup
XR_001755344.2:n.4498dup
XR_002958720.1:n.3054-415dup
XR_938347.2:n.4498dup
NM_020461.4:c.3929dup MANE Select	NP_065194.3:p.Gln1311ThrfsTer?