Canonical Allele Identifier: CA2410730807
Gene: TUBGCP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221236_50221237delinsAG , CM000684.2:g.50221236_50221237delinsAG GRCh38
NC_000022.10:g.50659665_50659666delinsAG , CM000684.1:g.50659665_50659666delinsAG GRCh37
NC_000022.9:g.49001792_49001793delinsAG NCBI36
NG_032160.1:g.28735_28736delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3122_3123delinsCT MANE Select ENSP00000248846.5:p.Ser1041=
ENST00000248846.9:c.3122_3123delinsCT ENSP00000248846.5:p.Ser1041=
ENST00000439308.6:c.3122_3123delinsCT ENSP00000397387.2:p.Ser1041=
ENST00000491449.5:n.1429_1430delinsCT
ENST00000498611.5:n.3617+38_3617+39delinsCT
NM_020461.3:c.3122_3123delinsCT NP_065194.2:p.Ser1041=
XR_938347.1:n.3687_3688delinsCT
XR_938348.1:n.3049+791_3049+792delinsCT
XR_001755343.2:n.3691_3692delinsCT
XR_001755344.2:n.3691_3692delinsCT
XR_002958720.1:n.3053+791_3053+792delinsCT
XR_938347.2:n.3691_3692delinsCT
NM_020461.4:c.3122_3123delinsCT MANE Select NP_065194.3:p.Ser1041=