Canonical Allele Identifier: CA1026636852

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2064510442
• gnomAD v3: 22-50220927-AACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCG-A
• gnomAD v4: 22-50220927-AACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220951_50221031del , CM000684.2:g.50220951_50221031del	GRCh38
NC_000022.10:g.50659380_50659460del , CM000684.1:g.50659380_50659460del	GRCh37
NC_000022.9:g.49001507_49001587del	NCBI36
NG_032160.1:g.28964_29044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3351_3431del MANE Select	ENSP00000248846.5:p.Gly1118_Val1144del
ENST00000248846.9:c.3351_3431del	ENSP00000248846.5:p.Gly1118_Val1144del
ENST00000439308.6:c.3351_3431del	ENSP00000397387.2:p.Gly1118_Val1144del
ENST00000491449.5:n.1658_1738del
ENST00000498611.5:n.3617+267_3617+347del
NM_020461.3:c.3351_3431del	NP_065194.2:p.Gly1118_Val1144del
XR_938347.1:n.3916_3996del
XR_938348.1:n.3050-993_3050-913del
XR_001755343.2:n.3920_4000del
XR_001755344.2:n.3920_4000del
XR_002958720.1:n.3054-993_3054-913del
XR_938347.2:n.3920_4000del
NM_020461.4:c.3351_3431del MANE Select	NP_065194.3:p.Gly1118_Val1144del