Canonical Allele Identifier: CA1107191

Gene: FLG

Linked Data

• dbSNP Id: rs765149328
• ExAC: 1:152284970 TCACCTGGTA / T
• gnomAD v2: 1-152284970-TCACCTGGTA-T
• gnomAD v3: 1-152312494-TCACCTGGTA-T
• gnomAD v4: 1-152312494-TCACCTGGTA-T
• MyVariant Identifiers: chr1:g.152284971_152284979del (hg19) ; chr1:g.152312495_152312503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312495_152312503del , CM000663.2:g.152312495_152312503del	GRCh38
NC_000001.10:g.152284971_152284979del , CM000663.1:g.152284971_152284979del	GRCh37
NC_000001.9:g.150551595_150551603del	NCBI36
NG_016190.1:g.17701_17709del , LRG_1028:g.17701_17709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2383_2391del MANE Select	ENSP00000357789.1:p.Tyr795_Val797del
ENST00000368799.1:c.2383_2391del	ENSP00000357789.1:p.Tyr795_Val797del
NM_002016.1:c.2383_2391del , LRG_1028t1:c.2383_2391del	NP_002007.1:p.Tyr795_Val797del
XM_011509329.1:c.2383_2391del	XP_011507631.1:p.Tyr795_Val797del
NM_002016.2:c.2383_2391del MANE Select	NP_002007.1:p.Tyr795_Val797del