Canonical Allele Identifier: CA1105343
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs778225885
ExAC: 1:152281114 CT / C
gnomAD v4: 1-152308638-CT-C
MyVariant Identifiers: chr1:g.152281115del (hg19) chr1:g.152308639del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308641del , CM000663.2:g.152308641del GRCh38
NC_000001.10:g.152281117del , CM000663.1:g.152281117del GRCh37
NC_000001.9:g.150547741del NCBI36
NG_016190.1:g.21565del , LRG_1028:g.21565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6247del MANE Select ENSP00000357789.1:p.Ser2083AlafsTer12
ENST00000368799.1:c.6247del ENSP00000357789.1:p.Ser2083AlafsTer12
NM_002016.1:c.6247del , LRG_1028t1:c.6247del NP_002007.1:p.Ser2083AlafsTer12
XM_011509329.1:c.6247del XP_011507631.1:p.Ser2083AlafsTer12
NM_002016.2:c.6247del MANE Select NP_002007.1:p.Ser2083AlafsTer12
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