Canonical Allele Identifier: CA420930819

Gene: FLG

Linked Data

• gnomAD v4: 1-152312557-CTT-C
• MyVariant Identifiers: chr1:g.152285034_152285035del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312558_152312559del , CM000663.2:g.152312558_152312559del	GRCh38
NC_000001.10:g.152285034_152285035del , CM000663.1:g.152285034_152285035del	GRCh37
NC_000001.9:g.150551658_150551659del	NCBI36
NG_016190.1:g.17645_17646del , LRG_1028:g.17645_17646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2327_2328del MANE Select	ENSP00000357789.1:p.Gln776ArgfsTer5
ENST00000368799.1:c.2327_2328del	ENSP00000357789.1:p.Gln776ArgfsTer5
NM_002016.1:c.2327_2328del , LRG_1028t1:c.2327_2328del	NP_002007.1:p.Gln776ArgfsTer5
XM_011509329.1:c.2327_2328del	XP_011507631.1:p.Gln776ArgfsTer5
NM_002016.2:c.2327_2328del MANE Select	NP_002007.1:p.Gln776ArgfsTer5