Canonical Allele Identifier: CA1007764793
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652209054
gnomAD v3: 1-152309185-C-CGGA
gnomAD v4: 1-152309185-C-CGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309185_152309186insGGA , CM000663.2:g.152309185_152309186insGGA GRCh38
NC_000001.10:g.152281661_152281662insGGA , CM000663.1:g.152281661_152281662insGGA GRCh37
NC_000001.9:g.150548285_150548286insGGA NCBI36
NG_016190.1:g.21018_21019insTCC , LRG_1028:g.21018_21019insTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5700_5701insTCC MANE Select ENSP00000357789.1:p.Val1900_Gly1901insSer
ENST00000368799.1:c.5700_5701insTCC ENSP00000357789.1:p.Val1900_Gly1901insSer
NM_002016.1:c.5700_5701insTCC , LRG_1028t1:c.5700_5701insTCC NP_002007.1:p.Val1900_Gly1901insSer
XM_011509329.1:c.5700_5701insTCC XP_011507631.1:p.Val1900_Gly1901insSer
NM_002016.2:c.5700_5701insTCC MANE Select NP_002007.1:p.Val1900_Gly1901insSer
Search 100 bp 5'
Search 100 bp 3'