Canonical Allele Identifier: CA2479951377
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311461_152311462delinsTG , CM000663.2:g.152311461_152311462delinsTG GRCh38
NC_000001.10:g.152283937_152283938delinsTG , CM000663.1:g.152283937_152283938delinsTG GRCh37
NC_000001.9:g.150550561_150550562delinsTG NCBI36
NG_016190.1:g.18742_18743delinsCA , LRG_1028:g.18742_18743delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3424_3425delinsCA MANE Select ENSP00000357789.1:p.Gln1142=
ENST00000368799.1:c.3424_3425delinsCA ENSP00000357789.1:p.Gln1142=
NM_002016.1:c.3424_3425delinsCA , LRG_1028t1:c.3424_3425delinsCA NP_002007.1:p.Gln1142=
XM_011509329.1:c.3424_3425delinsCA XP_011507631.1:p.Gln1142=
NM_002016.2:c.3424_3425delinsCA MANE Select NP_002007.1:p.Gln1142=