Canonical Allele Identifier: CA1007766396
Gene: FLG HGNC NCBI

Linked Data

gnomAD v3: 1-152307704-CT-C
gnomAD v4: 1-152307704-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307705del , CM000663.2:g.152307705del GRCh38
NC_000001.10:g.152280181del , CM000663.1:g.152280181del GRCh37
NC_000001.9:g.150546805del NCBI36
NG_016190.1:g.22499del , LRG_1028:g.22499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7181del MANE Select ENSP00000357789.1:p.Gln2394ArgfsTer25
ENST00000368799.1:c.7181del ENSP00000357789.1:p.Gln2394ArgfsTer25
NM_002016.1:c.7181del , LRG_1028t1:c.7181del NP_002007.1:p.Gln2394ArgfsTer25
XM_011509329.1:c.7181del XP_011507631.1:p.Gln2394ArgfsTer25
NM_002016.2:c.7181del MANE Select NP_002007.1:p.Gln2394ArgfsTer25
Search 100 bp 5'
Search 100 bp 3'