Canonical Allele Identifier: CA526662260
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1228964062
gnomAD v2: 1-152284780-AC-A
gnomAD v4: 1-152312304-AC-A
MyVariant Identifiers: chr1:g.152284781del (hg19) chr1:g.152312305del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312306del , CM000663.2:g.152312306del GRCh38
NC_000001.10:g.152284782del , CM000663.1:g.152284782del GRCh37
NC_000001.9:g.150551406del NCBI36
NG_016190.1:g.17899del , LRG_1028:g.17899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2581del MANE Select ENSP00000357789.1:p.Val861Ter
ENST00000368799.1:c.2581del ENSP00000357789.1:p.Val861Ter
NM_002016.1:c.2581del , LRG_1028t1:c.2581del NP_002007.1:p.Val861Ter
XM_011509329.1:c.2581del XP_011507631.1:p.Val861Ter
NM_002016.2:c.2581del MANE Select NP_002007.1:p.Val861Ter
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