Canonical Allele Identifier: CA1105348
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs780010597
ExAC: 1:152281121 CT / C
gnomAD v2: 1-152281121-CT-C
gnomAD v4: 1-152308645-CT-C
MyVariant Identifiers: chr1:g.152281122del (hg19) chr1:g.152308646del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308646del , CM000663.2:g.152308646del GRCh38
NC_000001.10:g.152281122del , CM000663.1:g.152281122del GRCh37
NC_000001.9:g.150547746del NCBI36
NG_016190.1:g.21558del , LRG_1028:g.21558del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6240del MANE Select ENSP00000357789.1:p.Glu2082LysfsTer13
ENST00000368799.1:c.6240del ENSP00000357789.1:p.Glu2082LysfsTer13
NM_002016.1:c.6240del , LRG_1028t1:c.6240del NP_002007.1:p.Glu2082LysfsTer13
XM_011509329.1:c.6240del XP_011507631.1:p.Glu2082LysfsTer13
NM_002016.2:c.6240del MANE Select NP_002007.1:p.Glu2082LysfsTer13
Search 100 bp 5'
Search 100 bp 3'