Canonical Allele Identifier: CA2479950908
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310492_152310493delinsCT , CM000663.2:g.152310492_152310493delinsCT GRCh38
NC_000001.10:g.152282968_152282969delinsCT , CM000663.1:g.152282968_152282969delinsCT GRCh37
NC_000001.9:g.150549592_150549593delinsCT NCBI36
NG_016190.1:g.19711_19712delinsAG , LRG_1028:g.19711_19712delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4393_4394delinsAG MANE Select ENSP00000357789.1:p.Arg1465=
ENST00000368799.1:c.4393_4394delinsAG ENSP00000357789.1:p.Arg1465=
NM_002016.1:c.4393_4394delinsAG , LRG_1028t1:c.4393_4394delinsAG NP_002007.1:p.Arg1465=
XM_011509329.1:c.4393_4394delinsAG XP_011507631.1:p.Arg1465=
NM_002016.2:c.4393_4394delinsAG MANE Select NP_002007.1:p.Arg1465=