Canonical Allele Identifier: CA1026636555

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2106486
• ClinVar RCV Id: RCV003015177
• gnomAD v3: 22-50220734-GGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
• gnomAD v4: 22-50220734-GGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220746_50220988del , CM000684.2:g.50220746_50220988del	GRCh38
NC_000022.10:g.50659175_50659417del , CM000684.1:g.50659175_50659417del	GRCh37
NC_000022.9:g.49001302_49001544del	NCBI36
NG_032160.1:g.28995_29237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3382_3624del MANE Select	ENSP00000248846.5:p.Arg1128_Thr1208del
ENST00000248846.9:c.3382_3624del	ENSP00000248846.5:p.Arg1128_Thr1208del
ENST00000439308.6:c.3382_3624del	ENSP00000397387.2:p.Arg1128_Thr1208del
ENST00000491449.5:n.1689_1931del
ENST00000498611.5:n.3617+298_3617+540del
NM_020461.3:c.3382_3624del	NP_065194.2:p.Arg1128_Thr1208del
XR_938347.1:n.3947_4189del
XR_938348.1:n.3050-962_3050-720del
XR_001755343.2:n.3951_4193del
XR_001755344.2:n.3951_4193del
XR_002958720.1:n.3054-962_3054-720del
XR_938347.2:n.3951_4193del
NM_020461.4:c.3382_3624del MANE Select	NP_065194.3:p.Arg1128_Thr1208del