Canonical Allele Identifier: CA1026636943

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220986-C-CTATTTCAGAAG
• gnomAD v4: 22-50220986-C-CTATTTCAGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220986_50220987insTATTTCAGAAG , CM000684.2:g.50220986_50220987insTATTTCAGAAG	GRCh38
NC_000022.10:g.50659415_50659416insTATTTCAGAAG , CM000684.1:g.50659415_50659416insTATTTCAGAAG	GRCh37
NC_000022.9:g.49001542_49001543insTATTTCAGAAG	NCBI36
NG_032160.1:g.28985_28986insCTTCTGAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3372_3373insCTTCTGAAATA MANE Select	ENSP00000248846.5:p.Ala1125LeufsTer4
ENST00000248846.9:c.3372_3373insCTTCTGAAATA	ENSP00000248846.5:p.Ala1125LeufsTer4
ENST00000439308.6:c.3372_3373insCTTCTGAAATA	ENSP00000397387.2:p.Ala1125LeufsTer4
ENST00000491449.5:n.1679_1680insCTTCTGAAATA
ENST00000498611.5:n.3617+288_3617+289insCTTCTGAAATA
NM_020461.3:c.3372_3373insCTTCTGAAATA	NP_065194.2:p.Ala1125LeufsTer4
XR_938347.1:n.3937_3938insCTTCTGAAATA
XR_938348.1:n.3050-972_3050-971insCTTCTGAAATA
XR_001755343.2:n.3941_3942insCTTCTGAAATA
XR_001755344.2:n.3941_3942insCTTCTGAAATA
XR_002958720.1:n.3054-972_3054-971insCTTCTGAAATA
XR_938347.2:n.3941_3942insCTTCTGAAATA
NM_020461.4:c.3372_3373insCTTCTGAAATA MANE Select	NP_065194.3:p.Ala1125LeufsTer4