Canonical Allele Identifier: CA640353765

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs1273902814
• gnomAD v2: 22-50659670-CGTA-C
• gnomAD v3: 22-50221241-CGTA-C
• gnomAD v4: 22-50221241-CGTA-C
• MyVariant Identifiers: chr22:g.50659671_50659673del (hg19) ; chr22:g.50221242_50221244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221244_50221246del , CM000684.2:g.50221244_50221246del	GRCh38
NC_000022.10:g.50659673_50659675del , CM000684.1:g.50659673_50659675del	GRCh37
NC_000022.9:g.49001800_49001802del	NCBI36
NG_032160.1:g.28728_28730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3115_3117del MANE Select	ENSP00000248846.5:p.Tyr1039del
ENST00000248846.9:c.3115_3117del	ENSP00000248846.5:p.Tyr1039del
ENST00000439308.6:c.3115_3117del	ENSP00000397387.2:p.Tyr1039del
ENST00000491449.5:n.1422_1424del
ENST00000498611.5:n.3617+31_3617+33del
NM_020461.3:c.3115_3117del	NP_065194.2:p.Tyr1039del
XR_938347.1:n.3680_3682del
XR_938348.1:n.3049+784_3049+786del
XR_001755343.2:n.3684_3686del
XR_001755344.2:n.3684_3686del
XR_002958720.1:n.3053+784_3053+786del
XR_938347.2:n.3684_3686del
NM_020461.4:c.3115_3117del MANE Select	NP_065194.3:p.Tyr1039del