Canonical Allele Identifier: CA2479947616
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1651833172
gnomAD v4: 1-152304748-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304750del , CM000663.2:g.152304750del GRCh38
NC_000001.10:g.152277226del , CM000663.1:g.152277226del GRCh37
NC_000001.9:g.150543850del NCBI36
NG_016190.1:g.25455del , LRG_1028:g.25455del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.10137del MANE Select ENSP00000357789.1:p.Arg3379SerfsTer12
ENST00000368799.1:c.10137del ENSP00000357789.1:p.Arg3379SerfsTer12
NM_002016.1:c.10137del , LRG_1028t1:c.10137del NP_002007.1:p.Arg3379SerfsTer12
XM_011509329.1:c.9109-916del XP_011507631.1:n.9109-916del
NM_002016.2:c.10137del MANE Select NP_002007.1:p.Arg3379SerfsTer12
Search 100 bp 5'
Search 100 bp 3'