Canonical Allele Identifier: CA2410730281

Gene: TUBGCP6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220416_50220429delinsGCACAGTGCTCTGT , CM000684.2:g.50220416_50220429delinsGCACAGTGCTCTGT	GRCh38
NC_000022.10:g.50658845_50658858delinsGCACAGTGCTCTGT , CM000684.1:g.50658845_50658858delinsGCACAGTGCTCTGT	GRCh37
NC_000022.9:g.49000972_49000985delinsGCACAGTGCTCTGT	NCBI36
NG_032160.1:g.29543_29556delinsACAGAGCACTGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3930_3943delinsACAGAGCACTGTGC MANE Select	ENSP00000248846.5:p.Ala1310=
ENST00000248846.9:c.3930_3943delinsACAGAGCACTGTGC	ENSP00000248846.5:p.Ala1310=
ENST00000439308.6:c.3930_3943delinsACAGAGCACTGTGC	ENSP00000397387.2:p.Ala1310=
ENST00000491449.5:n.2237_2250delinsACAGAGCACTGTGC
ENST00000498611.5:n.3618-414_3618-401delinsACAGAGCACTGTGC
NM_020461.3:c.3930_3943delinsACAGAGCACTGTGC	NP_065194.2:p.Ala1310=
XR_938347.1:n.4495_4508delinsACAGAGCACTGTGC
XR_938348.1:n.3050-414_3050-401delinsACAGAGCACTGTGC
XR_001755343.2:n.4499_4512delinsACAGAGCACTGTGC
XR_001755344.2:n.4499_4512delinsACAGAGCACTGTGC
XR_002958720.1:n.3054-414_3054-401delinsACAGAGCACTGTGC
XR_938347.2:n.4499_4512delinsACAGAGCACTGTGC
NM_020461.4:c.3930_3943delinsACAGAGCACTGTGC MANE Select	NP_065194.3:p.Ala1310=