Canonical Allele Identifier: CA2647993576
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152305077-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305078_152305079del , CM000663.2:g.152305078_152305079del GRCh38
NC_000001.10:g.152277554_152277555del , CM000663.1:g.152277554_152277555del GRCh37
NC_000001.9:g.150544178_150544179del NCBI36
NG_016190.1:g.25125_25126del , LRG_1028:g.25125_25126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9807_9808del MANE Select ENSP00000357789.1:p.Asp3269GlufsTer23
ENST00000368799.1:c.9807_9808del ENSP00000357789.1:p.Asp3269GlufsTer23
NM_002016.1:c.9807_9808del , LRG_1028t1:c.9807_9808del NP_002007.1:p.Asp3269GlufsTer23
XM_011509329.1:c.9108+699_9108+700del XP_011507631.1:n.9108+699_9108+700del
NM_002016.2:c.9807_9808del MANE Select NP_002007.1:p.Asp3269GlufsTer23
Search 100 bp 5'
Search 100 bp 3'