Canonical Allele Identifier: CA2479949776
Gene: FLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308666_152308668delinsCTT , CM000663.2:g.152308666_152308668delinsCTT GRCh38
NC_000001.10:g.152281142_152281144delinsCTT , CM000663.1:g.152281142_152281144delinsCTT GRCh37
NC_000001.9:g.150547766_150547768delinsCTT NCBI36
NG_016190.1:g.21536_21538delinsAAG , LRG_1028:g.21536_21538delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6218_6220delinsAAG MANE Select ENSP00000357789.1:p.Lys2073=
ENST00000368799.1:c.6218_6220delinsAAG ENSP00000357789.1:p.Lys2073=
NM_002016.1:c.6218_6220delinsAAG , LRG_1028t1:c.6218_6220delinsAAG NP_002007.1:p.Lys2073=
XM_011509329.1:c.6218_6220delinsAAG XP_011507631.1:p.Lys2073=
NM_002016.2:c.6218_6220delinsAAG MANE Select NP_002007.1:p.Lys2073=
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