Canonical Allele Identifier: CA2479950060
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309058_152309059delinsAG , CM000663.2:g.152309058_152309059delinsAG GRCh38
NC_000001.10:g.152281534_152281535delinsAG , CM000663.1:g.152281534_152281535delinsAG GRCh37
NC_000001.9:g.150548158_150548159delinsAG NCBI36
NG_016190.1:g.21145_21146delinsCT , LRG_1028:g.21145_21146delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5827_5828delinsCT MANE Select ENSP00000357789.1:p.Leu1943=
ENST00000368799.1:c.5827_5828delinsCT ENSP00000357789.1:p.Leu1943=
NM_002016.1:c.5827_5828delinsCT , LRG_1028t1:c.5827_5828delinsCT NP_002007.1:p.Leu1943=
XM_011509329.1:c.5827_5828delinsCT XP_011507631.1:p.Leu1943=
NM_002016.2:c.5827_5828delinsCT MANE Select NP_002007.1:p.Leu1943=