Canonical Allele Identifier: CA2410730432

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220675_50220708delinsGTTCTCCCCAACCCTGATGCTGGTGTCAGACACA , CM000684.2:g.50220675_50220708delinsGTTCTCCCCAACCCTGATGCTGGTGTCAGACACA	GRCh38
NC_000022.10:g.50659104_50659137delinsGTTCTCCCCAACCCTGATGCTGGTGTCAGACACA , CM000684.1:g.50659104_50659137delinsGTTCTCCCCAACCCTGATGCTGGTGTCAGACACA	GRCh37
NC_000022.9:g.49001231_49001264delinsGTTCTCCCCAACCCTGATGCTGGTGTCAGACACA	NCBI36
NG_032160.1:g.29264_29297delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3651_3684delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC MANE Select	ENSP00000248846.5:p.His1217=
ENST00000248846.9:c.3651_3684delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC	ENSP00000248846.5:p.His1217=
ENST00000439308.6:c.3651_3684delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC	ENSP00000397387.2:p.His1217=
ENST00000491449.5:n.1958_1991delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
ENST00000498611.5:n.3617+567_3617+600delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
NM_020461.3:c.3651_3684delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC	NP_065194.2:p.His1217=
XR_938347.1:n.4216_4249delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
XR_938348.1:n.3050-693_3050-660delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
XR_001755343.2:n.4220_4253delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
XR_001755344.2:n.4220_4253delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
XR_002958720.1:n.3054-693_3054-660delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
XR_938347.2:n.4220_4253delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC
NM_020461.4:c.3651_3684delinsTGTGTCTGACACCAGCATCAGGGTTGGGGAGAAC MANE Select	NP_065194.3:p.His1217=