Canonical Allele Identifier: CA2573158257

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1515159
• ClinVar RCV Id: RCV002020884
• dbSNP Id: rs2147179111
• gnomAD v3: 22-50221116-TCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGC-T
• gnomAD v4: 22-50221116-TCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221138_50221218del , CM000684.2:g.50221138_50221218del	GRCh38
NC_000022.10:g.50659567_50659647del , CM000684.1:g.50659567_50659647del	GRCh37
NC_000022.9:g.49001694_49001774del	NCBI36
NG_032160.1:g.28775_28855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3162_3242del MANE Select	ENSP00000248846.5:p.His1055_Gly1081del
ENST00000248846.9:c.3162_3242del	ENSP00000248846.5:p.His1055_Gly1081del
ENST00000439308.6:c.3162_3242del	ENSP00000397387.2:p.His1055_Gly1081del
ENST00000491449.5:n.1469_1549del
ENST00000498611.5:n.3617+78_3617+158del
NM_020461.3:c.3162_3242del	NP_065194.2:p.His1055_Gly1081del
XR_938347.1:n.3727_3807del
XR_938348.1:n.3049+831_3049+911del
XR_001755343.2:n.3731_3811del
XR_001755344.2:n.3731_3811del
XR_002958720.1:n.3053+831_3053+911del
XR_938347.2:n.3731_3811del
NM_020461.4:c.3162_3242del MANE Select	NP_065194.3:p.His1055_Gly1081del