Canonical Allele Identifier: CA526662265
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1372655143
gnomAD v2: 1-152284956-CTGTT-C
gnomAD v4: 1-152312480-CTGTT-C
MyVariant Identifiers: chr1:g.152284957_152284960del (hg19) chr1:g.152312481_152312484del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312482_152312485del , CM000663.2:g.152312482_152312485del GRCh38
NC_000001.10:g.152284958_152284961del , CM000663.1:g.152284958_152284961del GRCh37
NC_000001.9:g.150551582_150551585del NCBI36
NG_016190.1:g.17720_17723del , LRG_1028:g.17720_17723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2402_2405del MANE Select ENSP00000357789.1:p.Lys801SerfsTer15
ENST00000368799.1:c.2402_2405del ENSP00000357789.1:p.Lys801SerfsTer15
NM_002016.1:c.2402_2405del , LRG_1028t1:c.2402_2405del NP_002007.1:p.Lys801SerfsTer15
XM_011509329.1:c.2402_2405del XP_011507631.1:p.Lys801SerfsTer15
NM_002016.2:c.2402_2405del MANE Select NP_002007.1:p.Lys801SerfsTer15
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