Canonical Allele Identifier: CA2410730822
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs2064518141

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221268dup , CM000684.2:g.50221268dup GRCh38
NC_000022.10:g.50659697dup , CM000684.1:g.50659697dup GRCh37
NC_000022.9:g.49001824dup NCBI36
NG_032160.1:g.28708dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3095dup MANE Select ENSP00000248846.5:p.Gly1033TrpfsTer10
ENST00000248846.9:c.3095dup ENSP00000248846.5:p.Gly1033TrpfsTer10
ENST00000439308.6:c.3095dup ENSP00000397387.2:p.Gly1033TrpfsTer10
ENST00000491449.5:n.1402dup
ENST00000498611.5:n.3617+11dup
NM_020461.3:c.3095dup NP_065194.2:p.Gly1033TrpfsTer10
XR_938347.1:n.3660dup
XR_938348.1:n.3049+764dup
XR_001755343.2:n.3664dup
XR_001755344.2:n.3664dup
XR_002958720.1:n.3053+764dup
XR_938347.2:n.3664dup
NM_020461.4:c.3095dup MANE Select NP_065194.3:p.Gly1033TrpfsTer10