Canonical Allele Identifier: CA2570845302
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310517dup , CM000663.2:g.152310517dup GRCh38
NC_000001.10:g.152282993dup , CM000663.1:g.152282993dup GRCh37
NC_000001.9:g.150549617dup NCBI36
NG_016190.1:g.19687dup , LRG_1028:g.19687dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4369dup MANE Select ENSP00000357789.1:p.Gln1457ProfsTer15
ENST00000368799.1:c.4369dup ENSP00000357789.1:p.Gln1457ProfsTer15
NM_002016.1:c.4369dup , LRG_1028t1:c.4369dup NP_002007.1:p.Gln1457ProfsTer15
XM_011509329.1:c.4369dup XP_011507631.1:p.Gln1457ProfsTer15
NM_002016.2:c.4369dup MANE Select NP_002007.1:p.Gln1457ProfsTer15