Canonical Allele Identifier: CA526662261

Gene: FLG

Linked Data

• dbSNP Id: rs1385315492
• gnomAD v2: 1-152283976-GACTCA-G
• gnomAD v3: 1-152311500-GACTCA-G
• gnomAD v4: 1-152311500-GACTCA-G
• MyVariant Identifiers: chr1:g.152283977_152283981del (hg19) ; chr1:g.152311501_152311505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311501_152311505del , CM000663.2:g.152311501_152311505del	GRCh38
NC_000001.10:g.152283977_152283981del , CM000663.1:g.152283977_152283981del	GRCh37
NC_000001.9:g.150550601_150550605del	NCBI36
NG_016190.1:g.18699_18703del , LRG_1028:g.18699_18703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3381_3385del MANE Select	ENSP00000357789.1:p.Glu1128CysfsTer?
ENST00000368799.1:c.3381_3385del	ENSP00000357789.1:p.Glu1128CysfsTer?
NM_002016.1:c.3381_3385del , LRG_1028t1:c.3381_3385del	NP_002007.1:p.Glu1128CysfsTer?
XM_011509329.1:c.3381_3385del	XP_011507631.1:p.Glu1128CysfsTer?
NM_002016.2:c.3381_3385del MANE Select	NP_002007.1:p.Glu1128CysfsTer?