Canonical Allele Identifier: CA1026636611

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220781-TCAGACACG-T
• gnomAD v4: 22-50220781-TCAGACACG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220782_50220789del , CM000684.2:g.50220782_50220789del	GRCh38
NC_000022.10:g.50659211_50659218del , CM000684.1:g.50659211_50659218del	GRCh37
NC_000022.9:g.49001338_49001345del	NCBI36
NG_032160.1:g.29183_29190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3570_3577del MANE Select	ENSP00000248846.5:p.His1190GlnfsTer28
ENST00000248846.9:c.3570_3577del	ENSP00000248846.5:p.His1190GlnfsTer28
ENST00000439308.6:c.3570_3577del	ENSP00000397387.2:p.His1190GlnfsTer28
ENST00000491449.5:n.1877_1884del
ENST00000498611.5:n.3617+486_3617+493del
NM_020461.3:c.3570_3577del	NP_065194.2:p.His1190GlnfsTer28
XR_938347.1:n.4135_4142del
XR_938348.1:n.3050-774_3050-767del
XR_001755343.2:n.4139_4146del
XR_001755344.2:n.4139_4146del
XR_002958720.1:n.3054-774_3054-767del
XR_938347.2:n.4139_4146del
NM_020461.4:c.3570_3577del MANE Select	NP_065194.3:p.His1190GlnfsTer28