Canonical Allele Identifier: CA2410730486
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs2064505586

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220750dup , CM000684.2:g.50220750dup GRCh38
NC_000022.10:g.50659179dup , CM000684.1:g.50659179dup GRCh37
NC_000022.9:g.49001306dup NCBI36
NG_032160.1:g.29222dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3609dup MANE Select ENSP00000248846.5:p.Asp1204ArgfsTer17
ENST00000248846.9:c.3609dup ENSP00000248846.5:p.Asp1204ArgfsTer17
ENST00000439308.6:c.3609dup ENSP00000397387.2:p.Asp1204ArgfsTer17
ENST00000491449.5:n.1916dup
ENST00000498611.5:n.3617+525dup
NM_020461.3:c.3609dup NP_065194.2:p.Asp1204ArgfsTer17
XR_938347.1:n.4174dup
XR_938348.1:n.3050-735dup
XR_001755343.2:n.4178dup
XR_001755344.2:n.4178dup
XR_002958720.1:n.3054-735dup
XR_938347.2:n.4178dup
NM_020461.4:c.3609dup MANE Select NP_065194.3:p.Asp1204ArgfsTer17