Canonical Allele Identifier: CA526662266
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1220235933
gnomAD v2: 1-152285007-TTC-T
gnomAD v3: 1-152312531-TTC-T
gnomAD v4: 1-152312531-TTC-T
MyVariant Identifiers: chr1:g.152285008_152285009del (hg19) chr1:g.152312532_152312533del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312532_152312533del , CM000663.2:g.152312532_152312533del GRCh38
NC_000001.10:g.152285008_152285009del , CM000663.1:g.152285008_152285009del GRCh37
NC_000001.9:g.150551632_150551633del NCBI36
NG_016190.1:g.17671_17672del , LRG_1028:g.17671_17672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2353_2354del MANE Select ENSP00000357789.1:p.Glu785LysfsTer16
ENST00000368799.1:c.2353_2354del ENSP00000357789.1:p.Glu785LysfsTer16
NM_002016.1:c.2353_2354del , LRG_1028t1:c.2353_2354del NP_002007.1:p.Glu785LysfsTer16
XM_011509329.1:c.2353_2354del XP_011507631.1:p.Glu785LysfsTer16
NM_002016.2:c.2353_2354del MANE Select NP_002007.1:p.Glu785LysfsTer16
Search 100 bp 5'
Search 100 bp 3'