Canonical Allele Identifier: CA526662241
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1489546301
gnomAD v2: 1-152281183-GA-G
gnomAD v4: 1-152308707-GA-G
MyVariant Identifiers: chr1:g.152281184del (hg19) chr1:g.152308708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308708del , CM000663.2:g.152308708del GRCh38
NC_000001.10:g.152281184del , CM000663.1:g.152281184del GRCh37
NC_000001.9:g.150547808del NCBI36
NG_016190.1:g.21496del , LRG_1028:g.21496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6178del MANE Select ENSP00000357789.1:p.Ser2060GlnfsTer?
ENST00000368799.1:c.6178del ENSP00000357789.1:p.Ser2060GlnfsTer?
NM_002016.1:c.6178del , LRG_1028t1:c.6178del NP_002007.1:p.Ser2060GlnfsTer?
XM_011509329.1:c.6178del XP_011507631.1:p.Ser2060GlnfsTer?
NM_002016.2:c.6178del MANE Select NP_002007.1:p.Ser2060GlnfsTer?
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