Canonical Allele Identifier: CA10425253
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374329
ClinVar RCV Id: RCV000415303 RCV000624698 RCV002272226
dbSNP Id: rs756586058
ExAC: X:54497147 TG / T
gnomAD v3: X-54470714-TG-T
gnomAD v4: X-54470714-TG-T
COSMIC: COSM1468675
MyVariant Identifiers: chrX:g.54497148del (hg19) chrX:g.54470715del (hg38)
PubMed: PMID:8969170 PMID:11940089 PMID:14560308 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:19110080 PMID:20082460 PMID:22211847 PMID:24307393
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54470722del , CM000685.2:g.54470722del GRCh38
NC_000023.10:g.54497155del , CM000685.1:g.54497155del GRCh37
NC_000023.9:g.54513880del NCBI36
NG_008054.1:g.30452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.527del MANE Select ENSP00000364277.3:p.Pro176HisfsTer?
ENST00000375135.3:c.527del ENSP00000364277.3:p.Pro176HisfsTer?
NM_004463.2:c.527del NP_004454.2:p.Pro176HisfsTer?
NM_004463.3:c.527del MANE Select NP_004454.2:p.Pro176HisfsTer?
Search 100 bp 5'
Search 100 bp 3'