Canonical Allele Identifier: CA2657503418
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50221142-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221145del , CM000684.2:g.50221145del GRCh38
NC_000022.10:g.50659574del , CM000684.1:g.50659574del GRCh37
NC_000022.9:g.49001701del NCBI36
NG_032160.1:g.28829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3216del MANE Select ENSP00000248846.5:p.Thr1073ProfsTer18
ENST00000248846.9:c.3216del ENSP00000248846.5:p.Thr1073ProfsTer18
ENST00000439308.6:c.3216del ENSP00000397387.2:p.Thr1073ProfsTer18
ENST00000491449.5:n.1523del
ENST00000498611.5:n.3617+132del
NM_020461.3:c.3216del NP_065194.2:p.Thr1073ProfsTer18
XR_938347.1:n.3781del
XR_938348.1:n.3049+885del
XR_001755343.2:n.3785del
XR_001755344.2:n.3785del
XR_002958720.1:n.3053+885del
XR_938347.2:n.3785del
NM_020461.4:c.3216del MANE Select NP_065194.3:p.Thr1073ProfsTer18
Search 100 bp 5'
Search 100 bp 3'