Canonical Allele Identifier: CA1148869125
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308833_152308858delinsCTGGAGCTGTCTGCTGACTGGAGCTG , CM000663.2:g.152308833_152308858delinsCTGGAGCTGTCTGCTGACTGGAGCTG GRCh38
NC_000001.10:g.152281309_152281334delinsCTGGAGCTGTCTGCTGACTGGAGCTG , CM000663.1:g.152281309_152281334delinsCTGGAGCTGTCTGCTGACTGGAGCTG GRCh37
NC_000001.9:g.150547933_150547958delinsCTGGAGCTGTCTGCTGACTGGAGCTG NCBI36
NG_016190.1:g.21346_21371delinsCAGCTCCAGTCAGCAGACAGCTCCAG , LRG_1028:g.21346_21371delinsCAGCTCCAGTCAGCAGACAGCTCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG MANE Select ENSP00000357789.1:p.Gln2010=
ENST00000368799.1:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG ENSP00000357789.1:p.Gln2010=
NM_002016.1:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG , LRG_1028t1:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG NP_002007.1:p.Gln2010=
XM_011509329.1:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG XP_011507631.1:p.Gln2010=
NM_002016.2:c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG MANE Select NP_002007.1:p.Gln2010=