Canonical Allele Identifier: CA10307803

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1367488
• ClinVar RCV Id: RCV001962323
• dbSNP Id: rs765535822
• ExAC: 22:50658939 TGA / T
• gnomAD v2: 22-50658939-TGA-T
• gnomAD v4: 22-50220510-TGA-T
• MyVariant Identifiers: chr22:g.50658940_50658941del (hg19) ; chr22:g.50220511_50220512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220516_50220517del , CM000684.2:g.50220516_50220517del	GRCh38
NC_000022.10:g.50658945_50658946del , CM000684.1:g.50658945_50658946del	GRCh37
NC_000022.9:g.49001072_49001073del	NCBI36
NG_032160.1:g.29460_29461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3847_3848del MANE Select	ENSP00000248846.5:p.Ser1283ThrfsTer4
ENST00000248846.9:c.3847_3848del	ENSP00000248846.5:p.Ser1283ThrfsTer4
ENST00000439308.6:c.3847_3848del	ENSP00000397387.2:p.Ser1283ThrfsTer4
ENST00000491449.5:n.2154_2155del
ENST00000498611.5:n.3618-497_3618-496del
NM_020461.3:c.3847_3848del	NP_065194.2:p.Ser1283ThrfsTer4
XR_938347.1:n.4412_4413del
XR_938348.1:n.3050-497_3050-496del
XR_001755343.2:n.4416_4417del
XR_001755344.2:n.4416_4417del
XR_002958720.1:n.3054-497_3054-496del
XR_938347.2:n.4416_4417del
NM_020461.4:c.3847_3848del MANE Select	NP_065194.3:p.Ser1283ThrfsTer4