Canonical Allele Identifier: CA2574058016
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152308671-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308673del , CM000663.2:g.152308673del GRCh38
NC_000001.10:g.152281149del , CM000663.1:g.152281149del GRCh37
NC_000001.9:g.150547773del NCBI36
NG_016190.1:g.21532del , LRG_1028:g.21532del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6214del MANE Select ENSP00000357789.1:p.His2072ThrfsTer23
ENST00000368799.1:c.6214del ENSP00000357789.1:p.His2072ThrfsTer23
NM_002016.1:c.6214del , LRG_1028t1:c.6214del NP_002007.1:p.His2072ThrfsTer23
XM_011509329.1:c.6214del XP_011507631.1:p.His2072ThrfsTer23
NM_002016.2:c.6214del MANE Select NP_002007.1:p.His2072ThrfsTer23
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