Canonical Allele Identifier: CA2657503982

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221268-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221269del , CM000684.2:g.50221269del	GRCh38
NC_000022.10:g.50659698del , CM000684.1:g.50659698del	GRCh37
NC_000022.9:g.49001825del	NCBI36
NG_032160.1:g.28703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3090del MANE Select	ENSP00000248846.5:p.Gly1032ValfsTer12
ENST00000248846.9:c.3090del	ENSP00000248846.5:p.Gly1032ValfsTer12
ENST00000439308.6:c.3090del	ENSP00000397387.2:p.Gly1032ValfsTer12
ENST00000491449.5:n.1397del
ENST00000498611.5:n.3617+6del
NM_020461.3:c.3090del	NP_065194.2:p.Gly1032ValfsTer12
XR_938347.1:n.3655del
XR_938348.1:n.3049+759del
XR_001755343.2:n.3659del
XR_001755344.2:n.3659del
XR_002958720.1:n.3053+759del
XR_938347.2:n.3659del
NM_020461.4:c.3090del MANE Select	NP_065194.3:p.Gly1032ValfsTer12