Canonical Allele Identifier: CA1026636389

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220605-A-AC
• gnomAD v4: 22-50220605-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220605_50220606insC , CM000684.2:g.50220605_50220606insC	GRCh38
NC_000022.10:g.50659034_50659035insC , CM000684.1:g.50659034_50659035insC	GRCh37
NC_000022.9:g.49001161_49001162insC	NCBI36
NG_032160.1:g.29366_29367insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3753_3754insG MANE Select	ENSP00000248846.5:p.Leu1252ValfsTer?
ENST00000248846.9:c.3753_3754insG	ENSP00000248846.5:p.Leu1252ValfsTer?
ENST00000439308.6:c.3753_3754insG	ENSP00000397387.2:p.Leu1252ValfsTer?
ENST00000491449.5:n.2060_2061insG
ENST00000498611.5:n.3618-591_3618-590insG
NM_020461.3:c.3753_3754insG	NP_065194.2:p.Leu1252ValfsTer?
XR_938347.1:n.4318_4319insG
XR_938348.1:n.3050-591_3050-590insG
XR_001755343.2:n.4322_4323insG
XR_001755344.2:n.4322_4323insG
XR_002958720.1:n.3054-591_3054-590insG
XR_938347.2:n.4322_4323insG
NM_020461.4:c.3753_3754insG MANE Select	NP_065194.3:p.Leu1252ValfsTer?