Canonical Allele Identifier: CA526662219
Gene: FLG HGNC NCBI

Linked Data

gnomAD v2: 1-152281478-CG-C
gnomAD v4: 1-152309002-CG-C
MyVariant Identifiers: chr1:g.152281479del (hg19) chr1:g.152309003del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309003del , CM000663.2:g.152309003del GRCh38
NC_000001.10:g.152281479del , CM000663.1:g.152281479del GRCh37
NC_000001.9:g.150548103del NCBI36
NG_016190.1:g.21201del , LRG_1028:g.21201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5883del MANE Select ENSP00000357789.1:p.His1961GlnfsTer?
ENST00000368799.1:c.5883del ENSP00000357789.1:p.His1961GlnfsTer?
NM_002016.1:c.5883del , LRG_1028t1:c.5883del NP_002007.1:p.His1961GlnfsTer?
XM_011509329.1:c.5883del XP_011507631.1:p.His1961GlnfsTer?
NM_002016.2:c.5883del MANE Select NP_002007.1:p.His1961GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'