Canonical Allele Identifier: CA2479947588
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304706_152304708delinsCAT , CM000663.2:g.152304706_152304708delinsCAT GRCh38
NC_000001.10:g.152277182_152277184delinsCAT , CM000663.1:g.152277182_152277184delinsCAT GRCh37
NC_000001.9:g.150543806_150543808delinsCAT NCBI36
NG_016190.1:g.25496_25498delinsATG , LRG_1028:g.25496_25498delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10178_10180delinsATG MANE Select ENSP00000357789.1:p.His3393=
ENST00000368799.1:c.10178_10180delinsATG ENSP00000357789.1:p.His3393=
NM_002016.1:c.10178_10180delinsATG , LRG_1028t1:c.10178_10180delinsATG NP_002007.1:p.His3393=
XM_011509329.1:c.9109-875_9109-873delinsATG XP_011507631.1:n.9109-875_9109-873delinsATG
NM_002016.2:c.10178_10180delinsATG MANE Select NP_002007.1:p.His3393=