Canonical Allele Identifier: CA2548869422
Gene: FLG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307691_152307692insAGACAAGGAT , CM000663.2:g.152307691_152307692insAGACAAGGAT GRCh38
NC_000001.10:g.152280167_152280168insAGACAAGGAT , CM000663.1:g.152280167_152280168insAGACAAGGAT GRCh37
NC_000001.9:g.150546791_150546792insAGACAAGGAT NCBI36
NG_016190.1:g.22512_22513insATCCTTGTCT , LRG_1028:g.22512_22513insATCCTTGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7194_7195insATCCTTGTCT MANE Select ENSP00000357789.1:p.Ser2399IlefsTer27
ENST00000368799.1:c.7194_7195insATCCTTGTCT ENSP00000357789.1:p.Ser2399IlefsTer27
NM_002016.1:c.7194_7195insATCCTTGTCT , LRG_1028t1:c.7194_7195insATCCTTGTCT NP_002007.1:p.Ser2399IlefsTer27
XM_011509329.1:c.7194_7195insATCCTTGTCT XP_011507631.1:p.Ser2399IlefsTer27
NM_002016.2:c.7194_7195insATCCTTGTCT MANE Select NP_002007.1:p.Ser2399IlefsTer27
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