Canonical Allele Identifier: CA1026636810

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220905-C-CTATTTCAGAAG
• gnomAD v4: 22-50220905-C-CTATTTCAGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220905_50220906insTATTTCAGAAG , CM000684.2:g.50220905_50220906insTATTTCAGAAG	GRCh38
NC_000022.10:g.50659334_50659335insTATTTCAGAAG , CM000684.1:g.50659334_50659335insTATTTCAGAAG	GRCh37
NC_000022.9:g.49001461_49001462insTATTTCAGAAG	NCBI36
NG_032160.1:g.29066_29067insCTTCTGAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3453_3454insCTTCTGAAATA MANE Select	ENSP00000248846.5:p.Ala1152LeufsTer4
ENST00000248846.9:c.3453_3454insCTTCTGAAATA	ENSP00000248846.5:p.Ala1152LeufsTer4
ENST00000439308.6:c.3453_3454insCTTCTGAAATA	ENSP00000397387.2:p.Ala1152LeufsTer4
ENST00000491449.5:n.1760_1761insCTTCTGAAATA
ENST00000498611.5:n.3617+369_3617+370insCTTCTGAAATA
NM_020461.3:c.3453_3454insCTTCTGAAATA	NP_065194.2:p.Ala1152LeufsTer4
XR_938347.1:n.4018_4019insCTTCTGAAATA
XR_938348.1:n.3050-891_3050-890insCTTCTGAAATA
XR_001755343.2:n.4022_4023insCTTCTGAAATA
XR_001755344.2:n.4022_4023insCTTCTGAAATA
XR_002958720.1:n.3054-891_3054-890insCTTCTGAAATA
XR_938347.2:n.4022_4023insCTTCTGAAATA
NM_020461.4:c.3453_3454insCTTCTGAAATA MANE Select	NP_065194.3:p.Ala1152LeufsTer4