Canonical Allele Identifier: CA1026636777
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v3: 22-50220897-GGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA-G
gnomAD v4: 22-50220897-GGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220909_50221070del , CM000684.2:g.50220909_50221070del GRCh38
NC_000022.10:g.50659338_50659499del , CM000684.1:g.50659338_50659499del GRCh37
NC_000022.9:g.49001465_49001626del NCBI36
NG_032160.1:g.28913_29074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3300_3461del MANE Select ENSP00000248846.5:p.Arg1101_Thr1154del
ENST00000248846.9:c.3300_3461del ENSP00000248846.5:p.Arg1101_Thr1154del
ENST00000439308.6:c.3300_3461del ENSP00000397387.2:p.Arg1101_Thr1154del
ENST00000491449.5:n.1607_1768del
ENST00000498611.5:n.3617+216_3617+377del
NM_020461.3:c.3300_3461del NP_065194.2:p.Arg1101_Thr1154del
XR_938347.1:n.3865_4026del
XR_938348.1:n.3049+969_3050-883del
XR_001755343.2:n.3869_4030del
XR_001755344.2:n.3869_4030del
XR_002958720.1:n.3053+969_3054-883del
XR_938347.2:n.3869_4030del
NM_020461.4:c.3300_3461del MANE Select NP_065194.3:p.Arg1101_Thr1154del
Search 100 bp 5'
Search 100 bp 3'