Canonical Allele Identifier: CA640353754

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1234391585
• gnomAD v2: 22-50658900-G-GCT
• MyVariant Identifiers: chr22:g.50658900_50658901insCT (hg19) ; chr22:g.50220471_50220472insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220474_50220475dup , CM000684.2:g.50220474_50220475dup	GRCh38
NC_000022.10:g.50658903_50658904dup , CM000684.1:g.50658903_50658904dup	GRCh37
NC_000022.9:g.49001030_49001031dup	NCBI36
NG_032160.1:g.29499_29500dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3886_3887dup MANE Select	ENSP00000248846.5:p.Ser1296ArgfsTer29
ENST00000248846.9:c.3886_3887dup	ENSP00000248846.5:p.Ser1296ArgfsTer29
ENST00000439308.6:c.3886_3887dup	ENSP00000397387.2:p.Ser1296ArgfsTer29
ENST00000491449.5:n.2193_2194dup
ENST00000498611.5:n.3618-458_3618-457dup
NM_020461.3:c.3886_3887dup	NP_065194.2:p.Ser1296ArgfsTer29
XR_938347.1:n.4451_4452dup
XR_938348.1:n.3050-458_3050-457dup
XR_001755343.2:n.4455_4456dup
XR_001755344.2:n.4455_4456dup
XR_002958720.1:n.3054-458_3054-457dup
XR_938347.2:n.4455_4456dup
NM_020461.4:c.3886_3887dup MANE Select	NP_065194.3:p.Ser1296ArgfsTer29