Canonical Allele Identifier: CA2479949840

Gene: FLG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308714_152308722delinsACTGTGTGT , CM000663.2:g.152308714_152308722delinsACTGTGTGT	GRCh38
NC_000001.10:g.152281190_152281198delinsACTGTGTGT , CM000663.1:g.152281190_152281198delinsACTGTGTGT	GRCh37
NC_000001.9:g.150547814_150547822delinsACTGTGTGT	NCBI36
NG_016190.1:g.21482_21490delinsACACACAGT , LRG_1028:g.21482_21490delinsACACACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6164_6172delinsACACACAGT MANE Select	ENSP00000357789.1:p.Asp2055=
ENST00000368799.1:c.6164_6172delinsACACACAGT	ENSP00000357789.1:p.Asp2055=
NM_002016.1:c.6164_6172delinsACACACAGT , LRG_1028t1:c.6164_6172delinsACACACAGT	NP_002007.1:p.Asp2055=
XM_011509329.1:c.6164_6172delinsACACACAGT	XP_011507631.1:p.Asp2055=
NM_002016.2:c.6164_6172delinsACACACAGT MANE Select	NP_002007.1:p.Asp2055=