Canonical Allele Identifier: CA640353758

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1206491725
• gnomAD v2: 22-50659027-TC-T
• gnomAD v4: 22-50220598-TC-T
• MyVariant Identifiers: chr22:g.50659028del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220603del , CM000684.2:g.50220603del	GRCh38
NC_000022.10:g.50659032del , CM000684.1:g.50659032del	GRCh37
NC_000022.9:g.49001159del	NCBI36
NG_032160.1:g.29373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3760del MANE Select	ENSP00000248846.5:p.Glu1254SerfsTer?
ENST00000248846.9:c.3760del	ENSP00000248846.5:p.Glu1254SerfsTer?
ENST00000439308.6:c.3760del	ENSP00000397387.2:p.Glu1254SerfsTer?
ENST00000491449.5:n.2067del
ENST00000498611.5:n.3618-584del
NM_020461.3:c.3760del	NP_065194.2:p.Glu1254SerfsTer?
XR_938347.1:n.4325del
XR_938348.1:n.3050-584del
XR_001755343.2:n.4329del
XR_001755344.2:n.4329del
XR_002958720.1:n.3054-584del
XR_938347.2:n.4329del
NM_020461.4:c.3760del MANE Select	NP_065194.3:p.Glu1254SerfsTer?