Canonical Allele Identifier: CA2657501894

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50224480-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224481del , CM000684.2:g.50224481del	GRCh38
NC_000022.10:g.50662910del , CM000684.1:g.50662910del	GRCh37
NC_000022.9:g.49005037del	NCBI36
NG_032160.1:g.25491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2065+30del MANE Select	ENSP00000248846.5:n.2065+30del
ENST00000248846.9:c.2065+30del	ENSP00000248846.5:n.2065+30del
ENST00000439308.6:c.2065+30del	ENSP00000397387.2:n.2065+30del
ENST00000473946.1:n.374+30del
ENST00000489511.5:n.82+30del
ENST00000491449.5:n.372+30del
ENST00000498611.5:n.2598+30del
NM_020461.3:c.2065+30del	NP_065194.2:n.2065+30del
XR_938347.1:n.2630+30del
XR_938348.1:n.2630+30del
XR_001755343.2:n.2634+30del
XR_001755344.2:n.2634+30del
XR_002958720.1:n.2634+30del
XR_938347.2:n.2634+30del
NM_020461.4:c.2065+30del MANE Select	NP_065194.3:n.2065+30del