Canonical Allele Identifier: CA526662239
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1315810586
gnomAD v2: 1-152281173-TCC-T
gnomAD v4: 1-152308697-TCC-T
MyVariant Identifiers: chr1:g.152281174_152281175del (hg19) chr1:g.152308698_152308699del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308699_152308700del , CM000663.2:g.152308699_152308700del GRCh38
NC_000001.10:g.152281175_152281176del , CM000663.1:g.152281175_152281176del GRCh37
NC_000001.9:g.150547799_150547800del NCBI36
NG_016190.1:g.21505_21506del , LRG_1028:g.21505_21506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6187_6188del MANE Select ENSP00000357789.1:p.Gly2063LysfsTer?
ENST00000368799.1:c.6187_6188del ENSP00000357789.1:p.Gly2063LysfsTer?
NM_002016.1:c.6187_6188del , LRG_1028t1:c.6187_6188del NP_002007.1:p.Gly2063LysfsTer?
XM_011509329.1:c.6187_6188del XP_011507631.1:p.Gly2063LysfsTer?
NM_002016.2:c.6187_6188del MANE Select NP_002007.1:p.Gly2063LysfsTer?
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