Canonical Allele Identifier: CA1105443

Gene: FLG

Linked Data

• dbSNP Id: rs748254573
• ExAC: 1:152281308 TCTGGAGCTGTCTGCTGA / T
• gnomAD v2: 1-152281308-TCTGGAGCTGTCTGCTGA-T
• gnomAD v4: 1-152308832-TCTGGAGCTGTCTGCTGA-T
• MyVariant Identifiers: chr1:g.152281309_152281325del (hg19) ; chr1:g.152308833_152308849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308842_152308858del , CM000663.2:g.152308842_152308858del	GRCh38
NC_000001.10:g.152281318_152281334del , CM000663.1:g.152281318_152281334del	GRCh37
NC_000001.9:g.150547942_150547958del	NCBI36
NG_016190.1:g.21355_21371del , LRG_1028:g.21355_21371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6037_6053del MANE Select	ENSP00000357789.1:p.Ser2013ThrfsTer24
ENST00000368799.1:c.6037_6053del	ENSP00000357789.1:p.Ser2013ThrfsTer24
NM_002016.1:c.6037_6053del , LRG_1028t1:c.6037_6053del	NP_002007.1:p.Ser2013ThrfsTer24
XM_011509329.1:c.6037_6053del	XP_011507631.1:p.Ser2013ThrfsTer24
NM_002016.2:c.6037_6053del MANE Select	NP_002007.1:p.Ser2013ThrfsTer24