Canonical Allele Identifier: CA1026636656
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v3: 22-50220815-GGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
gnomAD v4: 22-50220815-GGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220818_50220979del , CM000684.2:g.50220818_50220979del GRCh38
NC_000022.10:g.50659247_50659408del , CM000684.1:g.50659247_50659408del GRCh37
NC_000022.9:g.49001374_49001535del NCBI36
NG_032160.1:g.28995_29156del

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.3382_3543del MANE Select ENSP00000248846.5:p.Arg1128_Ala1181del
ENST00000248846.9:c.3382_3543del ENSP00000248846.5:p.Arg1128_Ala1181del
ENST00000439308.6:c.3382_3543del ENSP00000397387.2:p.Arg1128_Ala1181del
ENST00000491449.5:n.1689_1850del
ENST00000498611.5:n.3617+298_3617+459del
NM_020461.3:c.3382_3543del NP_065194.2:p.Arg1128_Ala1181del
XR_938347.1:n.3947_4108del
XR_938348.1:n.3050-962_3050-801del
XR_001755343.2:n.3951_4112del
XR_001755344.2:n.3951_4112del
XR_002958720.1:n.3054-962_3054-801del
XR_938347.2:n.3951_4112del
NM_020461.4:c.3382_3543del MANE Select NP_065194.3:p.Arg1128_Ala1181del
Search 100 bp 5'
Search 100 bp 3'