Canonical Allele Identifier: CA1026636885

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220954-CCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGT-C
• gnomAD v4: 22-50220954-CCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220957_50221037del , CM000684.2:g.50220957_50221037del	GRCh38
NC_000022.10:g.50659386_50659466del , CM000684.1:g.50659386_50659466del	GRCh37
NC_000022.9:g.49001513_49001593del	NCBI36
NG_032160.1:g.28937_29017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3324_3404del MANE Select	ENSP00000248846.5:p.His1109_Gly1135del
ENST00000248846.9:c.3324_3404del	ENSP00000248846.5:p.His1109_Gly1135del
ENST00000439308.6:c.3324_3404del	ENSP00000397387.2:p.His1109_Gly1135del
ENST00000491449.5:n.1631_1711del
ENST00000498611.5:n.3617+240_3617+320del
NM_020461.3:c.3324_3404del	NP_065194.2:p.His1109_Gly1135del
XR_938347.1:n.3889_3969del
XR_938348.1:n.3049+993_3050-940del
XR_001755343.2:n.3893_3973del
XR_001755344.2:n.3893_3973del
XR_002958720.1:n.3053+993_3054-940del
XR_938347.2:n.3893_3973del
NM_020461.4:c.3324_3404del MANE Select	NP_065194.3:p.His1109_Gly1135del