Canonical Allele Identifier: CA526662195
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1557874552
gnomAD v2: 1-152280198-CT-C
gnomAD v4: 1-152307722-CT-C
MyVariant Identifiers: chr1:g.152280199del (hg19) chr1:g.152307723del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307723del , CM000663.2:g.152307723del GRCh38
NC_000001.10:g.152280199del , CM000663.1:g.152280199del GRCh37
NC_000001.9:g.150546823del NCBI36
NG_016190.1:g.22481del , LRG_1028:g.22481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7163del MANE Select ENSP00000357789.1:p.Gln2388ArgfsTer?
ENST00000368799.1:c.7163del ENSP00000357789.1:p.Gln2388ArgfsTer?
NM_002016.1:c.7163del , LRG_1028t1:c.7163del NP_002007.1:p.Gln2388ArgfsTer?
XM_011509329.1:c.7163del XP_011507631.1:p.Gln2388ArgfsTer?
NM_002016.2:c.7163del MANE Select NP_002007.1:p.Gln2388ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'