Canonical Allele Identifier: CA1104835

Gene: FLG

Linked Data

• dbSNP Id: rs764362017
• ExAC: 1:152280125 ACCCTGAACG / A
• MyVariant Identifiers: chr1:g.152280126_152280134del (hg19) ; chr1:g.152307650_152307658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152307650_152307658del , CM000663.2:g.152307650_152307658del	GRCh38
NC_000001.10:g.152280126_152280134del , CM000663.1:g.152280126_152280134del	GRCh37
NC_000001.9:g.150546750_150546758del	NCBI36
NG_016190.1:g.22546_22554del , LRG_1028:g.22546_22554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.7228_7236del MANE Select	ENSP00000357789.1:p.Arg2410_Gly2412del
ENST00000368799.1:c.7228_7236del	ENSP00000357789.1:p.Arg2410_Gly2412del
NM_002016.1:c.7228_7236del , LRG_1028t1:c.7228_7236del	NP_002007.1:p.Arg2410_Gly2412del
XM_011509329.1:c.7228_7236del	XP_011507631.1:p.Arg2410_Gly2412del
NM_002016.2:c.7228_7236del MANE Select	NP_002007.1:p.Arg2410_Gly2412del