Canonical Allele Identifier: CA641393784
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1300183219
gnomAD v2: X-54521690-TG-T
MyVariant Identifiers: chrX:g.54521691del (hg19) chrX:g.54495258del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495261del , CM000685.2:g.54495261del GRCh38
NC_000023.10:g.54521694del , CM000685.1:g.54521694del GRCh37
NC_000023.9:g.54538419del NCBI36
NG_008054.1:g.5909del

Transcript Alleles

HGVS Amino-acid change
ENST00000375135.4:c.175del MANE Select ENSP00000364277.3:p.Gln59SerfsTer?
ENST00000375135.3:c.175del ENSP00000364277.3:p.Gln59SerfsTer?
NM_004463.2:c.175del NP_004454.2:p.Gln59SerfsTer?
NM_004463.3:c.175del MANE Select NP_004454.2:p.Gln59SerfsTer?
Search 100 bp 5'
Search 100 bp 3'