Canonical Allele Identifier: CA2479950054
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652195275

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309051_152309054dup , CM000663.2:g.152309051_152309054dup GRCh38
NC_000001.10:g.152281527_152281530dup , CM000663.1:g.152281527_152281530dup GRCh37
NC_000001.9:g.150548151_150548154dup NCBI36
NG_016190.1:g.21150_21153dup , LRG_1028:g.21150_21153dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5832_5835dup MANE Select ENSP00000357789.1:p.Ala1946IlefsTer?
ENST00000368799.1:c.5832_5835dup ENSP00000357789.1:p.Ala1946IlefsTer?
NM_002016.1:c.5832_5835dup , LRG_1028t1:c.5832_5835dup NP_002007.1:p.Ala1946IlefsTer?
XM_011509329.1:c.5832_5835dup XP_011507631.1:p.Ala1946IlefsTer?
NM_002016.2:c.5832_5835dup MANE Select NP_002007.1:p.Ala1946IlefsTer?