Canonical Allele Identifier: CA915943206
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 817223
ClinVar RCV Id: RCV001008336
dbSNP Id: rs1560833290
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154604912dup , CM000666.2:g.154604912dup GRCh38
NC_000004.11:g.155526064dup , CM000666.1:g.155526064dup GRCh37
NC_000004.10:g.155745514dup NCBI36
NG_008834.1:g.12844dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.1289dup MANE Select ENSP00000336829.3:p.Ala431SerfsTer15
ENST00000336098.7:c.1289dup ENSP00000336829.3:p.Ala431SerfsTer15
ENST00000404648.7:c.1289dup ENSP00000384860.3:p.Ala431SerfsTer19
ENST00000405164.5:c.1313dup ENSP00000384101.1:p.Ala439SerfsTer19
ENST00000407946.5:c.1313dup ENSP00000384552.1:p.Ala439SerfsTer15
ENST00000465913.1:n.837dup
ENST00000492082.5:n.1831dup
NM_000509.4:c.1289dup NP_000500.2:p.Ala431SerfsTer19
NM_000509.5:c.1289dup NP_000500.2:p.Ala431SerfsTer19
NM_021870.2:c.1289dup NP_068656.2:p.Ala431SerfsTer15
NM_021870.3:c.1289dup MANE Select NP_068656.2:p.Ala431SerfsTer15
NM_000509.6:c.1289dup NP_000500.2:p.Ala431SerfsTer19
Search 100 bp 5'
Search 100 bp 3'