Canonical Allele Identifier: CA1026636581

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220752-A-AAGCGTAGT
• gnomAD v4: 22-50220752-A-AAGCGTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220752_50220753insAGCGTAGT , CM000684.2:g.50220752_50220753insAGCGTAGT	GRCh38
NC_000022.10:g.50659181_50659182insAGCGTAGT , CM000684.1:g.50659181_50659182insAGCGTAGT	GRCh37
NC_000022.9:g.49001308_49001309insAGCGTAGT	NCBI36
NG_032160.1:g.29219_29220insACTACGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3606_3607insACTACGCT MANE Select	ENSP00000248846.5:p.Ser1203ThrfsTer?
ENST00000248846.9:c.3606_3607insACTACGCT	ENSP00000248846.5:p.Ser1203ThrfsTer?
ENST00000439308.6:c.3606_3607insACTACGCT	ENSP00000397387.2:p.Ser1203ThrfsTer?
ENST00000491449.5:n.1913_1914insACTACGCT
ENST00000498611.5:n.3617+522_3617+523insACTACGCT
NM_020461.3:c.3606_3607insACTACGCT	NP_065194.2:p.Ser1203ThrfsTer?
XR_938347.1:n.4171_4172insACTACGCT
XR_938348.1:n.3050-738_3050-737insACTACGCT
XR_001755343.2:n.4175_4176insACTACGCT
XR_001755344.2:n.4175_4176insACTACGCT
XR_002958720.1:n.3054-738_3054-737insACTACGCT
XR_938347.2:n.4175_4176insACTACGCT
NM_020461.4:c.3606_3607insACTACGCT MANE Select	NP_065194.3:p.Ser1203ThrfsTer?