Canonical Allele Identifier: CA2647993555
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152310506-GGGTGCAGTCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310508_152310517del , CM000663.2:g.152310508_152310517del GRCh38
NC_000001.10:g.152282984_152282993del , CM000663.1:g.152282984_152282993del GRCh37
NC_000001.9:g.150549608_150549617del NCBI36
NG_016190.1:g.19688_19697del , LRG_1028:g.19688_19697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4370_4379del MANE Select ENSP00000357789.1:p.Gln1457ProfsTer?
ENST00000368799.1:c.4370_4379del ENSP00000357789.1:p.Gln1457ProfsTer?
NM_002016.1:c.4370_4379del , LRG_1028t1:c.4370_4379del NP_002007.1:p.Gln1457ProfsTer?
XM_011509329.1:c.4370_4379del XP_011507631.1:p.Gln1457ProfsTer?
NM_002016.2:c.4370_4379del MANE Select NP_002007.1:p.Gln1457ProfsTer?
Search 100 bp 5'
Search 100 bp 3'