Canonical Allele Identifier: CA2657502252

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs2147177920
• gnomAD v4: 22-50220715-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220716_50220718del , CM000684.2:g.50220716_50220718del	GRCh38
NC_000022.10:g.50659145_50659147del , CM000684.1:g.50659145_50659147del	GRCh37
NC_000022.9:g.49001272_49001274del	NCBI36
NG_032160.1:g.29254_29256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3641_3643del MANE Select	ENSP00000248846.5:p.Thr1214_His1215delinsAsn
ENST00000248846.9:c.3641_3643del	ENSP00000248846.5:p.Thr1214_His1215delinsAsn
ENST00000439308.6:c.3641_3643del	ENSP00000397387.2:p.Thr1214_His1215delinsAsn
ENST00000491449.5:n.1948_1950del
ENST00000498611.5:n.3617+557_3617+559del
NM_020461.3:c.3641_3643del	NP_065194.2:p.Thr1214_His1215delinsAsn
XR_938347.1:n.4206_4208del
XR_938348.1:n.3050-703_3050-701del
XR_001755343.2:n.4210_4212del
XR_001755344.2:n.4210_4212del
XR_002958720.1:n.3054-703_3054-701del
XR_938347.2:n.4210_4212del
NM_020461.4:c.3641_3643del MANE Select	NP_065194.3:p.Thr1214_His1215delinsAsn