Canonical Allele Identifier: CA2479949308
Gene: FLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307769_152307773delinsCCTCA , CM000663.2:g.152307769_152307773delinsCCTCA GRCh38
NC_000001.10:g.152280245_152280249delinsCCTCA , CM000663.1:g.152280245_152280249delinsCCTCA GRCh37
NC_000001.9:g.150546869_150546873delinsCCTCA NCBI36
NG_016190.1:g.22431_22435delinsTGAGG , LRG_1028:g.22431_22435delinsTGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7113_7117delinsTGAGG MANE Select ENSP00000357789.1:p.Ser2371=
ENST00000368799.1:c.7113_7117delinsTGAGG ENSP00000357789.1:p.Ser2371=
NM_002016.1:c.7113_7117delinsTGAGG , LRG_1028t1:c.7113_7117delinsTGAGG NP_002007.1:p.Ser2371=
XM_011509329.1:c.7113_7117delinsTGAGG XP_011507631.1:p.Ser2371=
NM_002016.2:c.7113_7117delinsTGAGG MANE Select NP_002007.1:p.Ser2371=
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