Canonical Allele Identifier: CA10307805
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073518
ClinVar RCV Id: RCV001386545
dbSNP Id: rs753094803
ExAC: 22:50658946 G / GC
gnomAD v2: 22-50658946-G-GC
gnomAD v3: 22-50220517-G-GC
gnomAD v4: 22-50220517-G-GC
MyVariant Identifiers: chr22:g.50658946_50658947insC (hg19) chr22:g.50220517_50220518insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220522dup , CM000684.2:g.50220522dup GRCh38
NC_000022.10:g.50658951dup , CM000684.1:g.50658951dup GRCh37
NC_000022.9:g.49001078dup NCBI36
NG_032160.1:g.29454dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3841dup MANE Select ENSP00000248846.5:p.Ala1281GlyfsTer7
ENST00000248846.9:c.3841dup ENSP00000248846.5:p.Ala1281GlyfsTer7
ENST00000439308.6:c.3841dup ENSP00000397387.2:p.Ala1281GlyfsTer7
ENST00000491449.5:n.2148dup
ENST00000498611.5:n.3618-503dup
NM_020461.3:c.3841dup NP_065194.2:p.Ala1281GlyfsTer7
XR_938347.1:n.4406dup
XR_938348.1:n.3050-503dup
XR_001755343.2:n.4410dup
XR_001755344.2:n.4410dup
XR_002958720.1:n.3054-503dup
XR_938347.2:n.4410dup
NM_020461.4:c.3841dup MANE Select NP_065194.3:p.Ala1281GlyfsTer7
Search 100 bp 5'
Search 100 bp 3'