Canonical Allele Identifier: CA10307900
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 957523
ClinVar RCV Id: RCV001230515
dbSNP Id: rs1569111394
ExAC: 22:50659212 AGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCG / A
gnomAD v2: 22-50659212-AGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCG-A
gnomAD v3: 22-50220783-AGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCG-A
gnomAD v4: 22-50220783-AGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCG-A
MyVariant Identifiers: chr22:g.50659213_50659293del (hg19) chr22:g.50220784_50220864del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220818_50220898del , CM000684.2:g.50220818_50220898del GRCh38
NC_000022.10:g.50659247_50659327del , CM000684.1:g.50659247_50659327del GRCh37
NC_000022.9:g.49001374_49001454del NCBI36
NG_032160.1:g.29108_29188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3495_3575del MANE Select ENSP00000248846.5:p.Asp1166_Ser1192del
ENST00000248846.9:c.3495_3575del ENSP00000248846.5:p.Asp1166_Ser1192del
ENST00000439308.6:c.3495_3575del ENSP00000397387.2:p.Asp1166_Ser1192del
ENST00000491449.5:n.1802_1882del
ENST00000498611.5:n.3617+411_3617+491del
NM_020461.3:c.3495_3575del NP_065194.2:p.Asp1166_Ser1192del
XR_938347.1:n.4060_4140del
XR_938348.1:n.3050-849_3050-769del
XR_001755343.2:n.4064_4144del
XR_001755344.2:n.4064_4144del
XR_002958720.1:n.3054-849_3054-769del
XR_938347.2:n.4064_4144del
NM_020461.4:c.3495_3575del MANE Select NP_065194.3:p.Asp1166_Ser1192del
Search 100 bp 5'
Search 100 bp 3'