Canonical Allele Identifier: CA2573158254

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1519391
• ClinVar RCV Id: RCV002043704
• dbSNP Id: rs2147178133

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220814_50221137del , CM000684.2:g.50220814_50221137del	GRCh38
NC_000022.10:g.50659243_50659566del , CM000684.1:g.50659243_50659566del	GRCh37
NC_000022.9:g.49001370_49001693del	NCBI36
NG_032160.1:g.28853_29176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3240_3563del MANE Select	ENSP00000248846.5:p.Gly1081_His1188del
ENST00000248846.9:c.3240_3563del	ENSP00000248846.5:p.Gly1081_His1188del
ENST00000439308.6:c.3240_3563del	ENSP00000397387.2:p.Gly1081_His1188del
ENST00000491449.5:n.1547_1870del
ENST00000498611.5:n.3617+156_3617+479del
NM_020461.3:c.3240_3563del	NP_065194.2:p.Gly1081_His1188del
XR_938347.1:n.3805_4128del
XR_938348.1:n.3049+909_3050-781del
XR_001755343.2:n.3809_4132del
XR_001755344.2:n.3809_4132del
XR_002958720.1:n.3053+909_3054-781del
XR_938347.2:n.3809_4132del
NM_020461.4:c.3240_3563del MANE Select	NP_065194.3:p.Gly1081_His1188del