Canonical Allele Identifier: CA658824578
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547364
ClinVar RCV Id: RCV000659633
dbSNP Id: rs1557191567
MyVariant Identifiers: chrX:g.54521588_54521589insA (hg19) chrX:g.54495155_54495156insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495157dup , CM000685.2:g.54495157dup GRCh38
NC_000023.10:g.54521590dup , CM000685.1:g.54521590dup GRCh37
NC_000023.9:g.54538315dup NCBI36
NG_008054.1:g.6011dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.277dup MANE Select ENSP00000364277.3:p.Tyr93LeufsTer21
ENST00000375135.3:c.277dup ENSP00000364277.3:p.Tyr93LeufsTer21
NM_004463.2:c.277dup NP_004454.2:p.Tyr93LeufsTer21
NM_004463.3:c.277dup MANE Select NP_004454.2:p.Tyr93LeufsTer21
Search 100 bp 5'
Search 100 bp 3'