Canonical Allele Identifier: CA889399856
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1324411
ClinVar RCV Id: RCV001781116
dbSNP Id: rs1314484669
gnomAD v3: 1-152308870-CAT-C
gnomAD v4: 1-152308870-CAT-C
MyVariant Identifiers: chr1:g.152281347_152281348del (hg19) chr1:g.152308871_152308872del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308871_152308872del , CM000663.2:g.152308871_152308872del GRCh38
NC_000001.10:g.152281347_152281348del , CM000663.1:g.152281347_152281348del GRCh37
NC_000001.9:g.150547971_150547972del NCBI36
NG_016190.1:g.21332_21333del , LRG_1028:g.21332_21333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6014_6015del MANE Select ENSP00000357789.1:p.His2005ArgfsTer?
ENST00000368799.1:c.6014_6015del ENSP00000357789.1:p.His2005ArgfsTer?
NM_002016.1:c.6014_6015del , LRG_1028t1:c.6014_6015del NP_002007.1:p.His2005ArgfsTer?
XM_011509329.1:c.6014_6015del XP_011507631.1:p.His2005ArgfsTer?
NM_002016.2:c.6014_6015del MANE Select NP_002007.1:p.His2005ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'