Canonical Allele Identifier: CA2647993761
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152312499-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312501del , CM000663.2:g.152312501del GRCh38
NC_000001.10:g.152284977del , CM000663.1:g.152284977del GRCh37
NC_000001.9:g.150551601del NCBI36
NG_016190.1:g.17704del , LRG_1028:g.17704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2386del MANE Select ENSP00000357789.1:p.Gln796ArgfsTer2
ENST00000368799.1:c.2386del ENSP00000357789.1:p.Gln796ArgfsTer2
NM_002016.1:c.2386del , LRG_1028t1:c.2386del NP_002007.1:p.Gln796ArgfsTer2
XM_011509329.1:c.2386del XP_011507631.1:p.Gln796ArgfsTer2
NM_002016.2:c.2386del MANE Select NP_002007.1:p.Gln796ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'