Canonical Allele Identifier: CA1133232686

Gene: FGD1

Linked Data

• dbSNP Id: rs756586058
• gnomAD v3: X-54470714-T-TGGGGGGGGGGGGGGGGCTCGAGG
• gnomAD v4: X-54470714-T-TGGGGGGGGGGGGGGGGCTCGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54470722_54470723insGGGGGGGGCTCGAGGGGGGGGGG , CM000685.2:g.54470722_54470723insGGGGGGGGCTCGAGGGGGGGGGG	GRCh38
NC_000023.10:g.54497155_54497156insGGGGGGGGCTCGAGGGGGGGGGG , CM000685.1:g.54497155_54497156insGGGGGGGGCTCGAGGGGGGGGGG	GRCh37
NC_000023.9:g.54513880_54513881insGGGGGGGGCTCGAGGGGGGGGGG	NCBI36
NG_008054.1:g.30452_30453insCCTCGAGCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.527_528insCCTCGAGCCCCCCCCCCCCCCCC MANE Select	ENSP00000364277.3:p.Ile180ProfsTer?
ENST00000375135.3:c.527_528insCCTCGAGCCCCCCCCCCCCCCCC	ENSP00000364277.3:p.Ile180ProfsTer?
NM_004463.2:c.527_528insCCTCGAGCCCCCCCCCCCCCCCC	NP_004454.2:p.Ile180ProfsTer?
NM_004463.3:c.527_528insCCTCGAGCCCCCCCCCCCCCCCC MANE Select	NP_004454.2:p.Ile180ProfsTer?