Canonical Allele Identifier: CA1106758
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 50928
ClinVar RCV Id: RCV000482142
dbSNP Id: rs41370446
ExAC: 1:152284104 CACTG / C
gnomAD v2: 1-152284104-CACTG-C
gnomAD v3: 1-152311628-CACTG-C
gnomAD v4: 1-152311628-CACTG-C
MyVariant Identifiers: chr1:g.152284105_152284108del (hg19) chr1:g.152311629_152311632del (hg38)
PubMed: PMID:16550169
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311633_152311636del , CM000663.2:g.152311633_152311636del GRCh38
NC_000001.10:g.152284109_152284112del , CM000663.1:g.152284109_152284112del GRCh37
NC_000001.9:g.150550733_150550736del NCBI36
NG_016190.1:g.18572_18575del , LRG_1028:g.18572_18575del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3254_3257del MANE Select ENSP00000357789.1:p.Ser1085CysfsTer?
ENST00000368799.1:c.3254_3257del ENSP00000357789.1:p.Ser1085CysfsTer?
NM_002016.1:c.3254_3257del , LRG_1028t1:c.3254_3257del NP_002007.1:p.Ser1085CysfsTer?
XM_011509329.1:c.3254_3257del XP_011507631.1:p.Ser1085CysfsTer?
NM_002016.2:c.3254_3257del MANE Select NP_002007.1:p.Ser1085CysfsTer?
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