Canonical Allele Identifier: CA754042298
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs1426388817
gnomAD v3: 22-50224498-TG-T
gnomAD v4: 22-50224498-TG-T
MyVariant Identifiers: chr22:g.50662928del (hg19) chr22:g.50224499del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224502del , CM000684.2:g.50224502del GRCh38
NC_000022.10:g.50662931del , CM000684.1:g.50662931del GRCh37
NC_000022.9:g.49005058del NCBI36
NG_032160.1:g.25473del

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.2065+12del MANE Select ENSP00000248846.5:n.2065+12del
ENST00000248846.9:c.2065+12del ENSP00000248846.5:n.2065+12del
ENST00000439308.6:c.2065+12del ENSP00000397387.2:n.2065+12del
ENST00000473946.1:n.374+12del
ENST00000489511.5:n.82+12del
ENST00000491449.5:n.372+12del
ENST00000498611.5:n.2598+12del
NM_020461.3:c.2065+12del NP_065194.2:n.2065+12del
XR_938347.1:n.2630+12del
XR_938348.1:n.2630+12del
XR_001755343.2:n.2634+12del
XR_001755344.2:n.2634+12del
XR_002958720.1:n.2634+12del
XR_938347.2:n.2634+12del
NM_020461.4:c.2065+12del MANE Select NP_065194.3:n.2065+12del
Search 100 bp 5'
Search 100 bp 3'