Canonical Allele Identifier: CA2746124222
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309193_152309215del , CM000663.2:g.152309193_152309215del GRCh38
NC_000001.10:g.152281669_152281691del , CM000663.1:g.152281669_152281691del GRCh37
NC_000001.9:g.150548293_150548315del NCBI36
NG_016190.1:g.20989_21011del , LRG_1028:g.20989_21011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5671_5693del MANE Select ENSP00000357789.1:p.Arg1891AlafsTer21
ENST00000368799.1:c.5671_5693del ENSP00000357789.1:p.Arg1891AlafsTer21
NM_002016.1:c.5671_5693del , LRG_1028t1:c.5671_5693del NP_002007.1:p.Arg1891AlafsTer21
XM_011509329.1:c.5671_5693del XP_011507631.1:p.Arg1891AlafsTer21
NM_002016.2:c.5671_5693del MANE Select NP_002007.1:p.Arg1891AlafsTer21