Canonical Allele Identifier: CA2647993658
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309185_152309186del , CM000663.2:g.152309185_152309186del GRCh38
NC_000001.10:g.152281661_152281662del , CM000663.1:g.152281661_152281662del GRCh37
NC_000001.9:g.150548285_150548286del NCBI36
NG_016190.1:g.21019_21020del , LRG_1028:g.21019_21020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5701_5702del MANE Select ENSP00000357789.1:p.Gly1901ProfsTer18
ENST00000368799.1:c.5701_5702del ENSP00000357789.1:p.Gly1901ProfsTer18
NM_002016.1:c.5701_5702del , LRG_1028t1:c.5701_5702del NP_002007.1:p.Gly1901ProfsTer18
XM_011509329.1:c.5701_5702del XP_011507631.1:p.Gly1901ProfsTer18
NM_002016.2:c.5701_5702del MANE Select NP_002007.1:p.Gly1901ProfsTer18