Canonical Allele Identifier: CA789378486

Gene: FGG

Linked Data

• dbSNP Id: rs1246554333
• gnomAD v3: 4-154604647-CA-C
• gnomAD v4: 4-154604647-CA-C
• MyVariant Identifiers: chr4:g.155525800del (hg19) ; chr4:g.154604648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154604649del , CM000666.2:g.154604649del	GRCh38
NC_000004.11:g.155525801del , CM000666.1:g.155525801del	GRCh37
NC_000004.10:g.155745251del	NCBI36
NG_008834.1:g.13103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336098.8:c.*186del MANE Select	ENSP00000336829.3:n.*186del
ENST00000336098.7:c.*186del	ENSP00000336829.3:n.*186del
ENST00000404648.7:c.1299+249del	ENSP00000384860.3:n.1299+249del
ENST00000405164.5:c.1323+249del	ENSP00000384101.1:n.1323+249del
ENST00000407946.5:c.*186del	ENSP00000384552.1:n.*186del
ENST00000465913.1:n.1096del
ENST00000492082.5:n.1841+249del
NM_000509.4:c.1299+249del	NP_000500.2:n.1299+249del
NM_000509.5:c.1299+249del	NP_000500.2:n.1299+249del
NM_021870.2:c.*186del	NP_068656.2:n.*186del
NM_021870.3:c.*186del MANE Select	NP_068656.2:n.*186del
NM_000509.6:c.1299+249del	NP_000500.2:n.1299+249del