Canonical Allele Identifier: CA16616974
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 419144
ClinVar RCV Id: RCV000484364
dbSNP Id: rs1064793675

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311049del , CM000663.2:g.152311049del GRCh38
NC_000001.10:g.152283525del , CM000663.1:g.152283525del GRCh37
NC_000001.9:g.150550149del NCBI36
NG_016190.1:g.19155del , LRG_1028:g.19155del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.3837del MANE Select ENSP00000357789.1:p.Ser1280GlnfsTer?
ENST00000368799.1:c.3837del ENSP00000357789.1:p.Ser1280GlnfsTer?
NM_002016.1:c.3837del , LRG_1028t1:c.3837del NP_002007.1:p.Ser1280GlnfsTer?
XM_011509329.1:c.3837del XP_011507631.1:p.Ser1280GlnfsTer?
NM_002016.2:c.3837del MANE Select NP_002007.1:p.Ser1280GlnfsTer?