Canonical Allele Identifier: CA2520225306
Gene: TUBGCP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220757_50220758insCGT , CM000684.2:g.50220757_50220758insCGT GRCh38
NC_000022.10:g.50659186_50659187insCGT , CM000684.1:g.50659186_50659187insCGT GRCh37
NC_000022.9:g.49001313_49001314insCGT NCBI36
NG_032160.1:g.29214_29215insACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3601_3602insACG MANE Select ENSP00000248846.5:p.Ser1201delinsTyrAla
ENST00000248846.9:c.3601_3602insACG ENSP00000248846.5:p.Ser1201delinsTyrAla
ENST00000439308.6:c.3601_3602insACG ENSP00000397387.2:p.Ser1201delinsTyrAla
ENST00000491449.5:n.1908_1909insACG
ENST00000498611.5:n.3617+517_3617+518insACG
NM_020461.3:c.3601_3602insACG NP_065194.2:p.Ser1201delinsTyrAla
XR_938347.1:n.4166_4167insACG
XR_938348.1:n.3050-743_3050-742insACG
XR_001755343.2:n.4170_4171insACG
XR_001755344.2:n.4170_4171insACG
XR_002958720.1:n.3054-743_3054-742insACG
XR_938347.2:n.4170_4171insACG
NM_020461.4:c.3601_3602insACG MANE Select NP_065194.3:p.Ser1201delinsTyrAla