Canonical Allele Identifier: CA1106059
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 432814
dbSNP Id: rs761519693

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310100_152310103del , CM000663.2:g.152310100_152310103del GRCh38
NC_000001.10:g.152282576_152282579del , CM000663.1:g.152282576_152282579del GRCh37
NC_000001.9:g.150549200_150549203del NCBI36
NG_016190.1:g.20103_20106del , LRG_1028:g.20103_20106del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.4785_4788del MANE Select ENSP00000357789.1:p.Ser1595ArgfsTer?
ENST00000368799.1:c.4785_4788del ENSP00000357789.1:p.Ser1595ArgfsTer?
NM_002016.1:c.4785_4788del , LRG_1028t1:c.4785_4788del NP_002007.1:p.Ser1595ArgfsTer?
XM_011509329.1:c.4785_4788del XP_011507631.1:p.Ser1595ArgfsTer?
NM_002016.2:c.4785_4788del MANE Select NP_002007.1:p.Ser1595ArgfsTer?