Canonical Allele Identifier: CA2479949742
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308638_152308639delinsCT , CM000663.2:g.152308638_152308639delinsCT GRCh38
NC_000001.10:g.152281114_152281115delinsCT , CM000663.1:g.152281114_152281115delinsCT GRCh37
NC_000001.9:g.150547738_150547739delinsCT NCBI36
NG_016190.1:g.21565_21566delinsAG , LRG_1028:g.21565_21566delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6247_6248delinsAG MANE Select ENSP00000357789.1:p.Ser2083=
ENST00000368799.1:c.6247_6248delinsAG ENSP00000357789.1:p.Ser2083=
NM_002016.1:c.6247_6248delinsAG , LRG_1028t1:c.6247_6248delinsAG NP_002007.1:p.Ser2083=
XM_011509329.1:c.6247_6248delinsAG XP_011507631.1:p.Ser2083=
NM_002016.2:c.6247_6248delinsAG MANE Select NP_002007.1:p.Ser2083=