Canonical Allele Identifier: CA526662238

Gene: FLG

Linked Data

• dbSNP Id: rs1557875706
• gnomAD v2: 1-152281142-CTT-C
• gnomAD v4: 1-152308666-CTT-C
• MyVariant Identifiers: chr1:g.152281143_152281144del (hg19) ; chr1:g.152308667_152308668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308668_152308669del , CM000663.2:g.152308668_152308669del	GRCh38
NC_000001.10:g.152281144_152281145del , CM000663.1:g.152281144_152281145del	GRCh37
NC_000001.9:g.150547768_150547769del	NCBI36
NG_016190.1:g.21536_21537del , LRG_1028:g.21536_21537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6218_6219del MANE Select	ENSP00000357789.1:p.Lys2073ArgfsTer25
ENST00000368799.1:c.6218_6219del	ENSP00000357789.1:p.Lys2073ArgfsTer25
NM_002016.1:c.6218_6219del , LRG_1028t1:c.6218_6219del	NP_002007.1:p.Lys2073ArgfsTer25
XM_011509329.1:c.6218_6219del	XP_011507631.1:p.Lys2073ArgfsTer25
NM_002016.2:c.6218_6219del MANE Select	NP_002007.1:p.Lys2073ArgfsTer25