Canonical Allele Identifier: CA2657503403
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50221138-TGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221149_50221229del , CM000684.2:g.50221149_50221229del GRCh38
NC_000022.10:g.50659578_50659658del , CM000684.1:g.50659578_50659658del GRCh37
NC_000022.9:g.49001705_49001785del NCBI36
NG_032160.1:g.28753_28833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3140_3220del MANE Select ENSP00000248846.5:p.Arg1047_Thr1073del
ENST00000248846.9:c.3140_3220del ENSP00000248846.5:p.Arg1047_Thr1073del
ENST00000439308.6:c.3140_3220del ENSP00000397387.2:p.Arg1047_Thr1073del
ENST00000491449.5:n.1447_1527del
ENST00000498611.5:n.3617+56_3617+136del
NM_020461.3:c.3140_3220del NP_065194.2:p.Arg1047_Thr1073del
XR_938347.1:n.3705_3785del
XR_938348.1:n.3049+809_3049+889del
XR_001755343.2:n.3709_3789del
XR_001755344.2:n.3709_3789del
XR_002958720.1:n.3053+809_3053+889del
XR_938347.2:n.3709_3789del
NM_020461.4:c.3140_3220del MANE Select NP_065194.3:p.Arg1047_Thr1073del
Search 100 bp 5'
Search 100 bp 3'