Canonical Allele Identifier: CA2693846241
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495021-GCGAGCCTGTTCCGAGGTGGGGCTTAGAGGGCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495026_54495057del , CM000685.2:g.54495026_54495057del GRCh38
NC_000023.10:g.54521459_54521490del , CM000685.1:g.54521459_54521490del GRCh37
NC_000023.9:g.54538184_54538215del NCBI36
NG_008054.1:g.6114_6145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+73_307+104del MANE Select ENSP00000364277.3:n.307+73_307+104del
ENST00000375135.3:c.307+73_307+104del ENSP00000364277.3:n.307+73_307+104del
NM_004463.2:c.307+73_307+104del NP_004454.2:n.307+73_307+104del
NM_004463.3:c.307+73_307+104del MANE Select NP_004454.2:n.307+73_307+104del
Search 100 bp 5'
Search 100 bp 3'