Canonical Allele Identifier: CA1026636266

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064498511
• gnomAD v3: 22-50220450-CTGGGACGTG-C
• gnomAD v4: 22-50220450-CTGGGACGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220454_50220462del , CM000684.2:g.50220454_50220462del	GRCh38
NC_000022.10:g.50658883_50658891del , CM000684.1:g.50658883_50658891del	GRCh37
NC_000022.9:g.49001010_49001018del	NCBI36
NG_032160.1:g.29513_29521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3900_3908del MANE Select	ENSP00000248846.5:p.His1300_Ser1302del
ENST00000248846.9:c.3900_3908del	ENSP00000248846.5:p.His1300_Ser1302del
ENST00000439308.6:c.3900_3908del	ENSP00000397387.2:p.His1300_Ser1302del
ENST00000491449.5:n.2207_2215del
ENST00000498611.5:n.3618-444_3618-436del
NM_020461.3:c.3900_3908del	NP_065194.2:p.His1300_Ser1302del
XR_938347.1:n.4465_4473del
XR_938348.1:n.3050-444_3050-436del
XR_001755343.2:n.4469_4477del
XR_001755344.2:n.4469_4477del
XR_002958720.1:n.3054-444_3054-436del
XR_938347.2:n.4469_4477del
NM_020461.4:c.3900_3908del MANE Select	NP_065194.3:p.His1300_Ser1302del