Canonical Allele Identifier: CA2647993479

Gene: FLG

Linked Data

• gnomAD v4: 1-152307690-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152307691del , CM000663.2:g.152307691del	GRCh38
NC_000001.10:g.152280167del , CM000663.1:g.152280167del	GRCh37
NC_000001.9:g.150546791del	NCBI36
NG_016190.1:g.22513del , LRG_1028:g.22513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.7195del MANE Select	ENSP00000357789.1:p.Ser2399ProfsTer20
ENST00000368799.1:c.7195del	ENSP00000357789.1:p.Ser2399ProfsTer20
NM_002016.1:c.7195del , LRG_1028t1:c.7195del	NP_002007.1:p.Ser2399ProfsTer20
XM_011509329.1:c.7195del	XP_011507631.1:p.Ser2399ProfsTer20
NM_002016.2:c.7195del MANE Select	NP_002007.1:p.Ser2399ProfsTer20