Canonical Allele Identifier: CA2657503826

Gene: TUBGCP6

Linked Data

• gnomAD v4: 22-50221229-C-CCACATCTGACACA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221229_50221230insCACATCTGACACA , CM000684.2:g.50221229_50221230insCACATCTGACACA	GRCh38
NC_000022.10:g.50659658_50659659insCACATCTGACACA , CM000684.1:g.50659658_50659659insCACATCTGACACA	GRCh37
NC_000022.9:g.49001785_49001786insCACATCTGACACA	NCBI36
NG_032160.1:g.28742_28743insTGTGTCAGATGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3129_3130insTGTGTCAGATGTG MANE Select	ENSP00000248846.5:p.Ala1044CysfsTer19
ENST00000248846.9:c.3129_3130insTGTGTCAGATGTG	ENSP00000248846.5:p.Ala1044CysfsTer19
ENST00000439308.6:c.3129_3130insTGTGTCAGATGTG	ENSP00000397387.2:p.Ala1044CysfsTer19
ENST00000491449.5:n.1436_1437insTGTGTCAGATGTG
ENST00000498611.5:n.3617+45_3617+46insTGTGTCAGATGTG
NM_020461.3:c.3129_3130insTGTGTCAGATGTG	NP_065194.2:p.Ala1044CysfsTer19
XR_938347.1:n.3694_3695insTGTGTCAGATGTG
XR_938348.1:n.3049+798_3049+799insTGTGTCAGATGTG
XR_001755343.2:n.3698_3699insTGTGTCAGATGTG
XR_001755344.2:n.3698_3699insTGTGTCAGATGTG
XR_002958720.1:n.3053+798_3053+799insTGTGTCAGATGTG
XR_938347.2:n.3698_3699insTGTGTCAGATGTG
NM_020461.4:c.3129_3130insTGTGTCAGATGTG MANE Select	NP_065194.3:p.Ala1044CysfsTer19