Canonical Allele Identifier: CA1104846
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs761842201
ExAC: 1:152280144 T / TTC
gnomAD v2: 1-152280144-T-TTC
gnomAD v3: 1-152307668-T-TTC
gnomAD v4: 1-152307668-T-TTC
MyVariant Identifiers: chr1:g.152280144_152280145insTC (hg19) chr1:g.152307668_152307669insTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307668_152307669insTC , CM000663.2:g.152307668_152307669insTC GRCh38
NC_000001.10:g.152280144_152280145insTC , CM000663.1:g.152280144_152280145insTC GRCh37
NC_000001.9:g.150546768_150546769insTC NCBI36
NG_016190.1:g.22535_22536insGA , LRG_1028:g.22535_22536insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7217_7218insGA MANE Select ENSP00000357789.1:p.Arg2407LysfsTer13
ENST00000368799.1:c.7217_7218insGA ENSP00000357789.1:p.Arg2407LysfsTer13
NM_002016.1:c.7217_7218insGA , LRG_1028t1:c.7217_7218insGA NP_002007.1:p.Arg2407LysfsTer13
XM_011509329.1:c.7217_7218insGA XP_011507631.1:p.Arg2407LysfsTer13
NM_002016.2:c.7217_7218insGA MANE Select NP_002007.1:p.Arg2407LysfsTer13
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