Canonical Allele Identifier: CA526662237
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1557875695
gnomAD v2: 1-152281136-C-CGGGGGGG
gnomAD v3: 1-152308660-C-CGGGGGGG
gnomAD v4: 1-152308660-C-CGGGGGGG
MyVariant Identifiers: chr1:g.152281136_152281137insGGGGGGG (hg19) chr1:g.152308660_152308661insGGGGGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308662_152308663insGGGGGGG , CM000663.2:g.152308662_152308663insGGGGGGG GRCh38
NC_000001.10:g.152281138_152281139insGGGGGGG , CM000663.1:g.152281138_152281139insGGGGGGG GRCh37
NC_000001.9:g.150547762_150547763insGGGGGGG NCBI36
NG_016190.1:g.21543_21544insCCCCCCC , LRG_1028:g.21543_21544insCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6225_6226insCCCCCCC MANE Select ENSP00000357789.1:p.Ala2076ProfsTer25
ENST00000368799.1:c.6225_6226insCCCCCCC ENSP00000357789.1:p.Ala2076ProfsTer25
NM_002016.1:c.6225_6226insCCCCCCC , LRG_1028t1:c.6225_6226insCCCCCCC NP_002007.1:p.Ala2076ProfsTer25
XM_011509329.1:c.6225_6226insCCCCCCC XP_011507631.1:p.Ala2076ProfsTer25
NM_002016.2:c.6225_6226insCCCCCCC MANE Select NP_002007.1:p.Ala2076ProfsTer25
Search 100 bp 5'
Search 100 bp 3'