Canonical Allele Identifier: CA1007764448

Gene: FLG

Linked Data

• dbSNP Id: rs1648794728
• gnomAD v3: 1-152308812-CCA-C
• gnomAD v4: 1-152308812-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308813_152308814del , CM000663.2:g.152308813_152308814del	GRCh38
NC_000001.10:g.152281289_152281290del , CM000663.1:g.152281289_152281290del	GRCh37
NC_000001.9:g.150547913_150547914del	NCBI36
NG_016190.1:g.21390_21391del , LRG_1028:g.21390_21391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6072_6073del MANE Select	ENSP00000357789.1:p.His2024GlnfsTer18
ENST00000368799.1:c.6072_6073del	ENSP00000357789.1:p.His2024GlnfsTer18
NM_002016.1:c.6072_6073del , LRG_1028t1:c.6072_6073del	NP_002007.1:p.His2024GlnfsTer18
XM_011509329.1:c.6072_6073del	XP_011507631.1:p.His2024GlnfsTer18
NM_002016.2:c.6072_6073del MANE Select	NP_002007.1:p.His2024GlnfsTer18