Canonical Allele Identifier: CA2542672178

Gene: FLG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311380_152311382del , CM000663.2:g.152311380_152311382del	GRCh38
NC_000001.10:g.152283856_152283858del , CM000663.1:g.152283856_152283858del	GRCh37
NC_000001.9:g.150550480_150550482del	NCBI36
NG_016190.1:g.18822_18824del , LRG_1028:g.18822_18824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3504_3506del MANE Select	ENSP00000357789.1:p.His1168_Pro1169delinsGln
ENST00000368799.1:c.3504_3506del	ENSP00000357789.1:p.His1168_Pro1169delinsGln
NM_002016.1:c.3504_3506del , LRG_1028t1:c.3504_3506del	NP_002007.1:p.His1168_Pro1169delinsGln
XM_011509329.1:c.3504_3506del	XP_011507631.1:p.His1168_Pro1169delinsGln
NM_002016.2:c.3504_3506del MANE Select	NP_002007.1:p.His1168_Pro1169delinsGln