Canonical Allele Identifier: CA2479949752
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308645_152308646delinsCT , CM000663.2:g.152308645_152308646delinsCT GRCh38
NC_000001.10:g.152281121_152281122delinsCT , CM000663.1:g.152281121_152281122delinsCT GRCh37
NC_000001.9:g.150547745_150547746delinsCT NCBI36
NG_016190.1:g.21558_21559delinsAG , LRG_1028:g.21558_21559delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6240_6241delinsAG MANE Select ENSP00000357789.1:p.Ser2080=
ENST00000368799.1:c.6240_6241delinsAG ENSP00000357789.1:p.Ser2080=
NM_002016.1:c.6240_6241delinsAG , LRG_1028t1:c.6240_6241delinsAG NP_002007.1:p.Ser2080=
XM_011509329.1:c.6240_6241delinsAG XP_011507631.1:p.Ser2080=
NM_002016.2:c.6240_6241delinsAG MANE Select NP_002007.1:p.Ser2080=