Canonical Allele Identifier: CA2479951438
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311564_152311565delinsCT , CM000663.2:g.152311564_152311565delinsCT GRCh38
NC_000001.10:g.152284040_152284041delinsCT , CM000663.1:g.152284040_152284041delinsCT GRCh37
NC_000001.9:g.150550664_150550665delinsCT NCBI36
NG_016190.1:g.18639_18640delinsAG , LRG_1028:g.18639_18640delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3321_3322delinsAG MANE Select ENSP00000357789.1:p.Ser1107=
ENST00000368799.1:c.3321_3322delinsAG ENSP00000357789.1:p.Ser1107=
NM_002016.1:c.3321_3322delinsAG , LRG_1028t1:c.3321_3322delinsAG NP_002007.1:p.Ser1107=
XM_011509329.1:c.3321_3322delinsAG XP_011507631.1:p.Ser1107=
NM_002016.2:c.3321_3322delinsAG MANE Select NP_002007.1:p.Ser1107=