Canonical Allele Identifier: CA1026636421

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064502489
• gnomAD v3: 22-50220633-ATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCG-A
• gnomAD v4: 22-50220633-ATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220642_50220722del , CM000684.2:g.50220642_50220722del	GRCh38
NC_000022.10:g.50659071_50659151del , CM000684.1:g.50659071_50659151del	GRCh37
NC_000022.9:g.49001198_49001278del	NCBI36
NG_032160.1:g.29258_29338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3645_3725del MANE Select	ENSP00000248846.5:p.Gly1216_His1242del
ENST00000248846.9:c.3645_3725del	ENSP00000248846.5:p.Gly1216_His1242del
ENST00000439308.6:c.3645_3725del	ENSP00000397387.2:p.Gly1216_His1242del
ENST00000491449.5:n.1952_2032del
ENST00000498611.5:n.3617+561_3618-619del
NM_020461.3:c.3645_3725del	NP_065194.2:p.Gly1216_His1242del
XR_938347.1:n.4210_4290del
XR_938348.1:n.3050-699_3050-619del
XR_001755343.2:n.4214_4294del
XR_001755344.2:n.4214_4294del
XR_002958720.1:n.3054-699_3054-619del
XR_938347.2:n.4214_4294del
NM_020461.4:c.3645_3725del MANE Select	NP_065194.3:p.Gly1216_His1242del