Canonical Allele Identifier: CA1106396
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs772430245
ExAC: 1:152283341 GT / G
gnomAD v2: 1-152283341-GT-G
gnomAD v4: 1-152310865-GT-G
MyVariant Identifiers: chr1:g.152283342del (hg19) chr1:g.152310866del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310866del , CM000663.2:g.152310866del GRCh38
NC_000001.10:g.152283342del , CM000663.1:g.152283342del GRCh37
NC_000001.9:g.150549966del NCBI36
NG_016190.1:g.19338del , LRG_1028:g.19338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4020del MANE Select ENSP00000357789.1:p.Gln1341ArgfsTer?
ENST00000368799.1:c.4020del ENSP00000357789.1:p.Gln1341ArgfsTer?
NM_002016.1:c.4020del , LRG_1028t1:c.4020del NP_002007.1:p.Gln1341ArgfsTer?
XM_011509329.1:c.4020del XP_011507631.1:p.Gln1341ArgfsTer?
NM_002016.2:c.4020del MANE Select NP_002007.1:p.Gln1341ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'