Canonical Allele Identifier: CA2657501880

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50220471-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220474_50220475del , CM000684.2:g.50220474_50220475del	GRCh38
NC_000022.10:g.50658903_50658904del , CM000684.1:g.50658903_50658904del	GRCh37
NC_000022.9:g.49001030_49001031del	NCBI36
NG_032160.1:g.29499_29500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3886_3887del MANE Select	ENSP00000248846.5:p.Ser1296ProfsTer?
ENST00000248846.9:c.3886_3887del	ENSP00000248846.5:p.Ser1296ProfsTer?
ENST00000439308.6:c.3886_3887del	ENSP00000397387.2:p.Ser1296ProfsTer?
ENST00000491449.5:n.2193_2194del
ENST00000498611.5:n.3618-458_3618-457del
NM_020461.3:c.3886_3887del	NP_065194.2:p.Ser1296ProfsTer?
XR_938347.1:n.4451_4452del
XR_938348.1:n.3050-458_3050-457del
XR_001755343.2:n.4455_4456del
XR_001755344.2:n.4455_4456del
XR_002958720.1:n.3054-458_3054-457del
XR_938347.2:n.4455_4456del
NM_020461.4:c.3886_3887del MANE Select	NP_065194.3:p.Ser1296ProfsTer?