Canonical Allele Identifier: CA2499226220

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1071641
• ClinVar RCV Id: RCV001384156
• dbSNP Id: rs2147177418
• gnomAD v4: 22-50220556-GTGTTCCACCGTGGCCGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220557_50220575del , CM000684.2:g.50220557_50220575del	GRCh38
NC_000022.10:g.50658986_50659004del , CM000684.1:g.50658986_50659004del	GRCh37
NC_000022.9:g.49001113_49001131del	NCBI36
NG_032160.1:g.29397_29415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3784_3802del MANE Select	ENSP00000248846.5:p.Thr1262ProfsTer?
ENST00000248846.9:c.3784_3802del	ENSP00000248846.5:p.Thr1262ProfsTer?
ENST00000439308.6:c.3784_3802del	ENSP00000397387.2:p.Thr1262ProfsTer?
ENST00000491449.5:n.2091_2109del
ENST00000498611.5:n.3618-560_3618-542del
NM_020461.3:c.3784_3802del	NP_065194.2:p.Thr1262ProfsTer?
XR_938347.1:n.4349_4367del
XR_938348.1:n.3050-560_3050-542del
XR_001755343.2:n.4353_4371del
XR_001755344.2:n.4353_4371del
XR_002958720.1:n.3054-560_3054-542del
XR_938347.2:n.4353_4371del
NM_020461.4:c.3784_3802del MANE Select	NP_065194.3:p.Thr1262ProfsTer?