Canonical Allele Identifier: CA2573158250
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458627
ClinVar RCV Id: RCV001975028
dbSNP Id: rs2147177201
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220472del , CM000684.2:g.50220472del GRCh38
NC_000022.10:g.50658901del , CM000684.1:g.50658901del GRCh37
NC_000022.9:g.49001028del NCBI36
NG_032160.1:g.29500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3887del MANE Select ENSP00000248846.5:p.Ser1296ThrfsTer28
ENST00000248846.9:c.3887del ENSP00000248846.5:p.Ser1296ThrfsTer28
ENST00000439308.6:c.3887del ENSP00000397387.2:p.Ser1296ThrfsTer28
ENST00000491449.5:n.2194del
ENST00000498611.5:n.3618-457del
NM_020461.3:c.3887del NP_065194.2:p.Ser1296ThrfsTer28
XR_938347.1:n.4452del
XR_938348.1:n.3050-457del
XR_001755343.2:n.4456del
XR_001755344.2:n.4456del
XR_002958720.1:n.3054-457del
XR_938347.2:n.4456del
NM_020461.4:c.3887del MANE Select NP_065194.3:p.Ser1296ThrfsTer28
Search 100 bp 5'
Search 100 bp 3'