Canonical Allele Identifier: CA2657502836

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220944-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220946dup , CM000684.2:g.50220946dup	GRCh38
NC_000022.10:g.50659375dup , CM000684.1:g.50659375dup	GRCh37
NC_000022.9:g.49001502dup	NCBI36
NG_032160.1:g.29027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3414dup MANE Select	ENSP00000248846.5:p.Asn1139GlnfsTer?
ENST00000248846.9:c.3414dup	ENSP00000248846.5:p.Asn1139GlnfsTer?
ENST00000439308.6:c.3414dup	ENSP00000397387.2:p.Asn1139GlnfsTer?
ENST00000491449.5:n.1721dup
ENST00000498611.5:n.3617+330dup
NM_020461.3:c.3414dup	NP_065194.2:p.Asn1139GlnfsTer?
XR_938347.1:n.3979dup
XR_938348.1:n.3050-930dup
XR_001755343.2:n.3983dup
XR_001755344.2:n.3983dup
XR_002958720.1:n.3054-930dup
XR_938347.2:n.3983dup
NM_020461.4:c.3414dup MANE Select	NP_065194.3:p.Asn1139GlnfsTer?