Canonical Allele Identifier: CA526662133
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1480797147
gnomAD v2: 1-152277349-CT-C
MyVariant Identifiers: chr1:g.152277350del (hg19) chr1:g.152304874del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304874del , CM000663.2:g.152304874del GRCh38
NC_000001.10:g.152277350del , CM000663.1:g.152277350del GRCh37
NC_000001.9:g.150543974del NCBI36
NG_016190.1:g.25330del , LRG_1028:g.25330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10012del MANE Select ENSP00000357789.1:p.Ser3338ValfsTer?
ENST00000368799.1:c.10012del ENSP00000357789.1:p.Ser3338ValfsTer?
NM_002016.1:c.10012del , LRG_1028t1:c.10012del NP_002007.1:p.Ser3338ValfsTer?
XM_011509329.1:c.9108+904del XP_011507631.1:n.9108+904del
NM_002016.2:c.10012del MANE Select NP_002007.1:p.Ser3338ValfsTer?
Search 100 bp 5'
Search 100 bp 3'