Canonical Allele Identifier: CA2479947793
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305044_152305046delinsGTC , CM000663.2:g.152305044_152305046delinsGTC GRCh38
NC_000001.10:g.152277520_152277522delinsGTC , CM000663.1:g.152277520_152277522delinsGTC GRCh37
NC_000001.9:g.150544144_150544146delinsGTC NCBI36
NG_016190.1:g.25158_25160delinsGAC , LRG_1028:g.25158_25160delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9840_9842delinsGAC MANE Select ENSP00000357789.1:p.Glu3280=
ENST00000368799.1:c.9840_9842delinsGAC ENSP00000357789.1:p.Glu3280=
NM_002016.1:c.9840_9842delinsGAC , LRG_1028t1:c.9840_9842delinsGAC NP_002007.1:p.Glu3280=
XM_011509329.1:c.9108+732_9108+734delinsGAC XP_011507631.1:n.9108+732_9108+734delinsGAC
NM_002016.2:c.9840_9842delinsGAC MANE Select NP_002007.1:p.Glu3280=