Canonical Allele Identifier: CA2479951945
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652519546

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312501_152312504del , CM000663.2:g.152312501_152312504del GRCh38
NC_000001.10:g.152284977_152284980del , CM000663.1:g.152284977_152284980del GRCh37
NC_000001.9:g.150551601_150551604del NCBI36
NG_016190.1:g.17701_17704del , LRG_1028:g.17701_17704del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2383_2386del MANE Select ENSP00000357789.1:p.Tyr795ArgfsTer2
ENST00000368799.1:c.2383_2386del ENSP00000357789.1:p.Tyr795ArgfsTer2
NM_002016.1:c.2383_2386del , LRG_1028t1:c.2383_2386del NP_002007.1:p.Tyr795ArgfsTer2
XM_011509329.1:c.2383_2386del XP_011507631.1:p.Tyr795ArgfsTer2
NM_002016.2:c.2383_2386del MANE Select NP_002007.1:p.Tyr795ArgfsTer2