Canonical Allele Identifier: CA2410730649
Gene: TUBGCP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220978_50221059delinsGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA , CM000684.2:g.50220978_50221059delinsGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA GRCh38
NC_000022.10:g.50659407_50659488delinsGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA , CM000684.1:g.50659407_50659488delinsGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA GRCh37
NC_000022.9:g.49001534_49001615delinsGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA NCBI36
NG_032160.1:g.28913_28994delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3300_3381delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC MANE Select ENSP00000248846.5:p.Thr1100=
ENST00000248846.9:c.3300_3381delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC ENSP00000248846.5:p.Thr1100=
ENST00000439308.6:c.3300_3381delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC ENSP00000397387.2:p.Thr1100=
ENST00000491449.5:n.1607_1688delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
ENST00000498611.5:n.3617+216_3617+297delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
NM_020461.3:c.3300_3381delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC NP_065194.2:p.Thr1100=
XR_938347.1:n.3865_3946delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
XR_938348.1:n.3049+969_3050-963delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
XR_001755343.2:n.3869_3950delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
XR_001755344.2:n.3869_3950delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
XR_002958720.1:n.3053+969_3054-963delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
XR_938347.2:n.3869_3950delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC
NM_020461.4:c.3300_3381delinsTCGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACC MANE Select NP_065194.3:p.Thr1100=