Canonical Allele Identifier: CA1106219
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs754859409
ExAC: 1:152282912 CTTGGGATG / C
gnomAD v2: 1-152282912-CTTGGGATG-C
gnomAD v3: 1-152310436-CTTGGGATG-C
gnomAD v4: 1-152310436-CTTGGGATG-C
MyVariant Identifiers: chr1:g.152282913_152282920del (hg19) chr1:g.152310437_152310444del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310437_152310444del , CM000663.2:g.152310437_152310444del GRCh38
NC_000001.10:g.152282913_152282920del , CM000663.1:g.152282913_152282920del GRCh37
NC_000001.9:g.150549537_150549544del NCBI36
NG_016190.1:g.19760_19767del , LRG_1028:g.19760_19767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4442_4449del MANE Select ENSP00000357789.1:p.Ala1481GlyfsTer28
ENST00000368799.1:c.4442_4449del ENSP00000357789.1:p.Ala1481GlyfsTer28
NM_002016.1:c.4442_4449del , LRG_1028t1:c.4442_4449del NP_002007.1:p.Ala1481GlyfsTer28
XM_011509329.1:c.4442_4449del XP_011507631.1:p.Ala1481GlyfsTer28
NM_002016.2:c.4442_4449del MANE Select NP_002007.1:p.Ala1481GlyfsTer28
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