Canonical Allele Identifier: CA2410730301

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220450_50220459delinsCTGGGACGTG , CM000684.2:g.50220450_50220459delinsCTGGGACGTG	GRCh38
NC_000022.10:g.50658879_50658888delinsCTGGGACGTG , CM000684.1:g.50658879_50658888delinsCTGGGACGTG	GRCh37
NC_000022.9:g.49001006_49001015delinsCTGGGACGTG	NCBI36
NG_032160.1:g.29513_29522delinsCACGTCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3900_3909delinsCACGTCCCAG MANE Select	ENSP00000248846.5:p.His1300=
ENST00000248846.9:c.3900_3909delinsCACGTCCCAG	ENSP00000248846.5:p.His1300=
ENST00000439308.6:c.3900_3909delinsCACGTCCCAG	ENSP00000397387.2:p.His1300=
ENST00000491449.5:n.2207_2216delinsCACGTCCCAG
ENST00000498611.5:n.3618-444_3618-435delinsCACGTCCCAG
NM_020461.3:c.3900_3909delinsCACGTCCCAG	NP_065194.2:p.His1300=
XR_938347.1:n.4465_4474delinsCACGTCCCAG
XR_938348.1:n.3050-444_3050-435delinsCACGTCCCAG
XR_001755343.2:n.4469_4478delinsCACGTCCCAG
XR_001755344.2:n.4469_4478delinsCACGTCCCAG
XR_002958720.1:n.3054-444_3054-435delinsCACGTCCCAG
XR_938347.2:n.4469_4478delinsCACGTCCCAG
NM_020461.4:c.3900_3909delinsCACGTCCCAG MANE Select	NP_065194.3:p.His1300=