Canonical Allele Identifier: CA16616891
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 417897
ClinVar RCV Id: RCV000477947
dbSNP Id: rs1060499587

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313987_152313991del , CM000663.2:g.152313987_152313991del GRCh38
NC_000001.10:g.152286463_152286467del , CM000663.1:g.152286463_152286467del GRCh37
NC_000001.9:g.150553087_150553091del NCBI36
NG_016190.1:g.16217_16221del , LRG_1028:g.16217_16221del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.899_903del MANE Select ENSP00000357789.1:p.Asp300GlyfsTer3
ENST00000368799.1:c.899_903del ENSP00000357789.1:p.Asp300GlyfsTer3
NM_002016.1:c.899_903del , LRG_1028t1:c.899_903del NP_002007.1:p.Asp300GlyfsTer3
NR_103778.1:n.529_533del
XM_011509329.1:c.899_903del XP_011507631.1:p.Asp300GlyfsTer3
NM_002016.2:c.899_903del MANE Select NP_002007.1:p.Asp300GlyfsTer3