Canonical Allele Identifier: CA658824578

Gene: FGD1

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)

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