Canonical Allele Identifier: CA1105605
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs765009981
ExAC: 1:152281613 TG / T
gnomAD v2: 1-152281613-TG-T
gnomAD v4: 1-152309137-TG-T
MyVariant Identifiers: chr1:g.152281614del (hg19) chr1:g.152309138del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309139del , CM000663.2:g.152309139del GRCh38
NC_000001.10:g.152281615del , CM000663.1:g.152281615del GRCh37
NC_000001.9:g.150548239del NCBI36
NG_016190.1:g.21066del , LRG_1028:g.21066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5748del MANE Select ENSP00000357789.1:p.Ser1917ValfsTer?
ENST00000368799.1:c.5748del ENSP00000357789.1:p.Ser1917ValfsTer?
NM_002016.1:c.5748del , LRG_1028t1:c.5748del NP_002007.1:p.Ser1917ValfsTer?
XM_011509329.1:c.5748del XP_011507631.1:p.Ser1917ValfsTer?
NM_002016.2:c.5748del MANE Select NP_002007.1:p.Ser1917ValfsTer?
Search 100 bp 5'
Search 100 bp 3'