Canonical Allele Identifier: CA526662262
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1557880211
gnomAD v2: 1-152284876-G-GA
gnomAD v4: 1-152312400-G-GA
MyVariant Identifiers: chr1:g.152284876_152284877insA (hg19) chr1:g.152312400_152312401insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312401dup , CM000663.2:g.152312401dup GRCh38
NC_000001.10:g.152284877dup , CM000663.1:g.152284877dup GRCh37
NC_000001.9:g.150551501dup NCBI36
NG_016190.1:g.17803dup , LRG_1028:g.17803dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2485dup MANE Select ENSP00000357789.1:p.Ser829PhefsTer?
ENST00000368799.1:c.2485dup ENSP00000357789.1:p.Ser829PhefsTer?
NM_002016.1:c.2485dup , LRG_1028t1:c.2485dup NP_002007.1:p.Ser829PhefsTer?
XM_011509329.1:c.2485dup XP_011507631.1:p.Ser829PhefsTer?
NM_002016.2:c.2485dup MANE Select NP_002007.1:p.Ser829PhefsTer?
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