Canonical Allele Identifier: CA889438167

Gene: FLG

Linked Data

• dbSNP Id: rs1437131832
• gnomAD v3: 1-152310688-CCT-C
• gnomAD v4: 1-152310688-CCT-C
• MyVariant Identifiers: chr1:g.152283165_152283166del (hg19) ; chr1:g.152310689_152310690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310690_152310691del , CM000663.2:g.152310690_152310691del	GRCh38
NC_000001.10:g.152283166_152283167del , CM000663.1:g.152283166_152283167del	GRCh37
NC_000001.9:g.150549790_150549791del	NCBI36
NG_016190.1:g.19514_19515del , LRG_1028:g.19514_19515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4196_4197del MANE Select	ENSP00000357789.1:p.Glu1399GlyfsTer?
ENST00000368799.1:c.4196_4197del	ENSP00000357789.1:p.Glu1399GlyfsTer?
NM_002016.1:c.4196_4197del , LRG_1028t1:c.4196_4197del	NP_002007.1:p.Glu1399GlyfsTer?
XM_011509329.1:c.4196_4197del	XP_011507631.1:p.Glu1399GlyfsTer?
NM_002016.2:c.4196_4197del MANE Select	NP_002007.1:p.Glu1399GlyfsTer?