Canonical Allele Identifier: CA2693845684
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs756586058
gnomAD v4: X-54470714-T-TGGGGGGGGGTGGGGCCCCTGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54470722_54470723insGTGGGGCCCCTGGGGGGGGGG , CM000685.2:g.54470722_54470723insGTGGGGCCCCTGGGGGGGGGG GRCh38
NC_000023.10:g.54497155_54497156insGTGGGGCCCCTGGGGGGGGGG , CM000685.1:g.54497155_54497156insGTGGGGCCCCTGGGGGGGGGG GRCh37
NC_000023.9:g.54513880_54513881insGTGGGGCCCCTGGGGGGGGGG NCBI36
NG_008054.1:g.30452_30453insCCAGGGGCCCCACCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.527_528insCCAGGGGCCCCACCCCCCCCC MANE Select ENSP00000364277.3:p.Pro176_Leu177insGlnGlyProHisProProPro
ENST00000375135.3:c.527_528insCCAGGGGCCCCACCCCCCCCC ENSP00000364277.3:p.Pro176_Leu177insGlnGlyProHisProProPro
NM_004463.2:c.527_528insCCAGGGGCCCCACCCCCCCCC NP_004454.2:p.Pro176_Leu177insGlnGlyProHisProProPro
NM_004463.3:c.527_528insCCAGGGGCCCCACCCCCCCCC MANE Select NP_004454.2:p.Pro176_Leu177insGlnGlyProHisProProPro
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