Canonical Allele Identifier: CA1133242226
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1647975317
gnomAD v3: X-54495014-GAGGT-G
gnomAD v4: X-54495014-GAGGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495016_54495019del , CM000685.2:g.54495016_54495019del GRCh38
NC_000023.10:g.54521449_54521452del , CM000685.1:g.54521449_54521452del GRCh37
NC_000023.9:g.54538174_54538177del NCBI36
NG_008054.1:g.6149_6152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+108_307+111del MANE Select ENSP00000364277.3:n.307+108_307+111del
ENST00000375135.3:c.307+108_307+111del ENSP00000364277.3:n.307+108_307+111del
NM_004463.2:c.307+108_307+111del NP_004454.2:n.307+108_307+111del
NM_004463.3:c.307+108_307+111del MANE Select NP_004454.2:n.307+108_307+111del
Search 100 bp 5'
Search 100 bp 3'