Canonical Allele Identifier: CA2573903669
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311382del , CM000663.2:g.152311382del GRCh38
NC_000001.10:g.152283858del , CM000663.1:g.152283858del GRCh37
NC_000001.9:g.150550482del NCBI36
NG_016190.1:g.18824del , LRG_1028:g.18824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3506del MANE Select ENSP00000357789.1:p.Pro1169ArgfsTer17
ENST00000368799.1:c.3506del ENSP00000357789.1:p.Pro1169ArgfsTer17
NM_002016.1:c.3506del , LRG_1028t1:c.3506del NP_002007.1:p.Pro1169ArgfsTer17
XM_011509329.1:c.3506del XP_011507631.1:p.Pro1169ArgfsTer17
NM_002016.2:c.3506del MANE Select NP_002007.1:p.Pro1169ArgfsTer17