Canonical Allele Identifier: CA2647993483
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152307734-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307735del , CM000663.2:g.152307735del GRCh38
NC_000001.10:g.152280211del , CM000663.1:g.152280211del GRCh37
NC_000001.9:g.150546835del NCBI36
NG_016190.1:g.22469del , LRG_1028:g.22469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7151del MANE Select ENSP00000357789.1:p.Ser2384Ter
ENST00000368799.1:c.7151del ENSP00000357789.1:p.Ser2384Ter
NM_002016.1:c.7151del , LRG_1028t1:c.7151del NP_002007.1:p.Ser2384Ter
XM_011509329.1:c.7151del XP_011507631.1:p.Ser2384Ter
NM_002016.2:c.7151del MANE Select NP_002007.1:p.Ser2384Ter
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