Canonical Allele Identifier: CA2657501872

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50224411-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224413_50224414del , CM000684.2:g.50224413_50224414del	GRCh38
NC_000022.10:g.50662842_50662843del , CM000684.1:g.50662842_50662843del	GRCh37
NC_000022.9:g.49004969_49004970del	NCBI36
NG_032160.1:g.25559_25560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2073_2074del MANE Select	ENSP00000248846.5:p.Gln691HisfsTer13
ENST00000248846.9:c.2073_2074del	ENSP00000248846.5:p.Gln691HisfsTer13
ENST00000439308.6:c.2073_2074del	ENSP00000397387.2:p.Gln691HisfsTer13
ENST00000473946.1:n.382_383del
ENST00000489511.5:n.90_91del
ENST00000491449.5:n.380_381del
ENST00000498611.5:n.2606_2607del
NM_020461.3:c.2073_2074del	NP_065194.2:p.Gln691HisfsTer13
XR_938347.1:n.2638_2639del
XR_938348.1:n.2638_2639del
XR_001755343.2:n.2642_2643del
XR_001755344.2:n.2642_2643del
XR_002958720.1:n.2642_2643del
XR_938347.2:n.2642_2643del
NM_020461.4:c.2073_2074del MANE Select	NP_065194.3:p.Gln691HisfsTer13