Canonical Allele Identifier: CA2573158252
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480372
ClinVar RCV Id: RCV001991283
dbSNP Id: rs2147177408
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220578_50220739del , CM000684.2:g.50220578_50220739del GRCh38
NC_000022.10:g.50659007_50659168del , CM000684.1:g.50659007_50659168del GRCh37
NC_000022.9:g.49001134_49001295del NCBI36
NG_032160.1:g.29258_29419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3645_3806del MANE Select ENSP00000248846.5:p.Gly1216_His1269del
ENST00000248846.9:c.3645_3806del ENSP00000248846.5:p.Gly1216_His1269del
ENST00000439308.6:c.3645_3806del ENSP00000397387.2:p.Gly1216_His1269del
ENST00000491449.5:n.1952_2113del
ENST00000498611.5:n.3617+561_3618-538del
NM_020461.3:c.3645_3806del NP_065194.2:p.Gly1216_His1269del
XR_938347.1:n.4210_4371del
XR_938348.1:n.3050-699_3050-538del
XR_001755343.2:n.4214_4375del
XR_001755344.2:n.4214_4375del
XR_002958720.1:n.3054-699_3054-538del
XR_938347.2:n.4214_4375del
NM_020461.4:c.3645_3806del MANE Select NP_065194.3:p.Gly1216_His1269del
Search 100 bp 5'
Search 100 bp 3'