Canonical Allele Identifier: CA2693846275
Gene: FGD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495060del , CM000685.2:g.54495060del GRCh38
NC_000023.10:g.54521493del , CM000685.1:g.54521493del GRCh37
NC_000023.9:g.54538218del NCBI36
NG_008054.1:g.6107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+66del MANE Select ENSP00000364277.3:n.307+66del
ENST00000375135.3:c.307+66del ENSP00000364277.3:n.307+66del
NM_004463.2:c.307+66del NP_004454.2:n.307+66del
NM_004463.3:c.307+66del MANE Select NP_004454.2:n.307+66del