Canonical Allele Identifier: CA2479947693
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304873_152304874delinsCT , CM000663.2:g.152304873_152304874delinsCT GRCh38
NC_000001.10:g.152277349_152277350delinsCT , CM000663.1:g.152277349_152277350delinsCT GRCh37
NC_000001.9:g.150543973_150543974delinsCT NCBI36
NG_016190.1:g.25330_25331delinsAG , LRG_1028:g.25330_25331delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10012_10013delinsAG MANE Select ENSP00000357789.1:p.Ser3338=
ENST00000368799.1:c.10012_10013delinsAG ENSP00000357789.1:p.Ser3338=
NM_002016.1:c.10012_10013delinsAG , LRG_1028t1:c.10012_10013delinsAG NP_002007.1:p.Ser3338=
XM_011509329.1:c.9108+904_9108+905delinsAG XP_011507631.1:n.9108+904_9108+905delinsAG
NM_002016.2:c.10012_10013delinsAG MANE Select NP_002007.1:p.Ser3338=