Canonical Allele Identifier: CA889386604
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1380384330
gnomAD v3: 1-152305044-GTC-G
gnomAD v4: 1-152305044-GTC-G
MyVariant Identifiers: chr1:g.152277521_152277522del (hg19) chr1:g.152305045_152305046del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305048_152305049del , CM000663.2:g.152305048_152305049del GRCh38
NC_000001.10:g.152277524_152277525del , CM000663.1:g.152277524_152277525del GRCh37
NC_000001.9:g.150544148_150544149del NCBI36
NG_016190.1:g.25158_25159del , LRG_1028:g.25158_25159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9840_9841del MANE Select ENSP00000357789.1:p.Glu3280AspfsTer12
ENST00000368799.1:c.9840_9841del ENSP00000357789.1:p.Glu3280AspfsTer12
NM_002016.1:c.9840_9841del , LRG_1028t1:c.9840_9841del NP_002007.1:p.Glu3280AspfsTer12
XM_011509329.1:c.9108+732_9108+733del XP_011507631.1:n.9108+732_9108+733del
NM_002016.2:c.9840_9841del MANE Select NP_002007.1:p.Glu3280AspfsTer12
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Search 100 bp 3'