Canonical Allele Identifier: CA1133242236

Gene: FGD1

Linked Data

• dbSNP Id: rs1923495829
• gnomAD v3: X-54495022-C-CCAAA
• gnomAD v4: X-54495022-C-CCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495022_54495023insCAAA , CM000685.2:g.54495022_54495023insCAAA	GRCh38
NC_000023.10:g.54521455_54521456insCAAA , CM000685.1:g.54521455_54521456insCAAA	GRCh37
NC_000023.9:g.54538180_54538181insCAAA	NCBI36
NG_008054.1:g.6144_6145insTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.307+103_307+104insTTTG MANE Select	ENSP00000364277.3:n.307+103_307+104insTTTG
ENST00000375135.3:c.307+103_307+104insTTTG	ENSP00000364277.3:n.307+103_307+104insTTTG
NM_004463.2:c.307+103_307+104insTTTG	NP_004454.2:n.307+103_307+104insTTTG
NM_004463.3:c.307+103_307+104insTTTG MANE Select	NP_004454.2:n.307+103_307+104insTTTG