Canonical Allele Identifier: CA1026636515

Gene: TUBGCP6

Linked Data

• gnomAD v3: 22-50220708-ATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACG-A
• gnomAD v4: 22-50220708-ATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220711_50220953del , CM000684.2:g.50220711_50220953del	GRCh38
NC_000022.10:g.50659140_50659382del , CM000684.1:g.50659140_50659382del	GRCh37
NC_000022.9:g.49001267_49001509del	NCBI36
NG_032160.1:g.29021_29263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3408_3650del MANE Select	ENSP00000248846.5:p.Val1137_His1217del
ENST00000248846.9:c.3408_3650del	ENSP00000248846.5:p.Val1137_His1217del
ENST00000439308.6:c.3408_3650del	ENSP00000397387.2:p.Val1137_His1217del
ENST00000491449.5:n.1715_1957del
ENST00000498611.5:n.3617+324_3617+566del
NM_020461.3:c.3408_3650del	NP_065194.2:p.Val1137_His1217del
XR_938347.1:n.3973_4215del
XR_938348.1:n.3050-936_3050-694del
XR_001755343.2:n.3977_4219del
XR_001755344.2:n.3977_4219del
XR_002958720.1:n.3054-936_3054-694del
XR_938347.2:n.3977_4219del
NM_020461.4:c.3408_3650del MANE Select	NP_065194.3:p.Val1137_His1217del