Canonical Allele Identifier: CA2521061642
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310515dup , CM000663.2:g.152310515dup GRCh38
NC_000001.10:g.152282991dup , CM000663.1:g.152282991dup GRCh37
NC_000001.9:g.150549615dup NCBI36
NG_016190.1:g.19689dup , LRG_1028:g.19689dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4371dup MANE Select ENSP00000357789.1:p.Thr1458AspfsTer14
ENST00000368799.1:c.4371dup ENSP00000357789.1:p.Thr1458AspfsTer14
NM_002016.1:c.4371dup , LRG_1028t1:c.4371dup NP_002007.1:p.Thr1458AspfsTer14
XM_011509329.1:c.4371dup XP_011507631.1:p.Thr1458AspfsTer14
NM_002016.2:c.4371dup MANE Select NP_002007.1:p.Thr1458AspfsTer14