Canonical Allele Identifier: CA30551860
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs35425142

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309137dup , CM000663.2:g.152309137dup GRCh38
NC_000001.10:g.152281613dup , CM000663.1:g.152281613dup GRCh37
NC_000001.9:g.150548237dup NCBI36
NG_016190.1:g.21067dup , LRG_1028:g.21067dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5749dup MANE Select ENSP00000357789.1:p.Ser1917LysfsTer3
ENST00000368799.1:c.5749dup ENSP00000357789.1:p.Ser1917LysfsTer3
NM_002016.1:c.5749dup , LRG_1028t1:c.5749dup NP_002007.1:p.Ser1917LysfsTer3
XM_011509329.1:c.5749dup XP_011507631.1:p.Ser1917LysfsTer3
NM_002016.2:c.5749dup MANE Select NP_002007.1:p.Ser1917LysfsTer3