Canonical Allele Identifier: CA2410732536
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs2064573428

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224366_50224367del , CM000684.2:g.50224366_50224367del GRCh38
NC_000022.10:g.50662795_50662796del , CM000684.1:g.50662795_50662796del GRCh37
NC_000022.9:g.49004922_49004923del NCBI36
NG_032160.1:g.25605_25606del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2119_2120del MANE Select ENSP00000248846.5:p.Gln707GlufsTer23
ENST00000248846.9:c.2119_2120del ENSP00000248846.5:p.Gln707GlufsTer23
ENST00000439308.6:c.2119_2120del ENSP00000397387.2:p.Gln707GlufsTer23
ENST00000473946.1:n.428_429del
ENST00000489511.5:n.136_137del
ENST00000491449.5:n.426_427del
ENST00000498611.5:n.2652_2653del
NM_020461.3:c.2119_2120del NP_065194.2:p.Gln707GlufsTer23
XR_938347.1:n.2684_2685del
XR_938348.1:n.2684_2685del
XR_001755343.2:n.2688_2689del
XR_001755344.2:n.2688_2689del
XR_002958720.1:n.2688_2689del
XR_938347.2:n.2688_2689del
NM_020461.4:c.2119_2120del MANE Select NP_065194.3:p.Gln707GlufsTer23