Canonical Allele Identifier: CA342089018
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152312346-GA-G
MyVariant Identifiers: chr1:g.152312347del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312347del , CM000663.2:g.152312347del GRCh38
NC_000001.10:g.152284823del , CM000663.1:g.152284823del GRCh37
NC_000001.9:g.150551447del NCBI36
NG_016190.1:g.17857del , LRG_1028:g.17857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2539del MANE Select ENSP00000357789.1:p.Ser847GlnfsTer15
ENST00000368799.1:c.2539del ENSP00000357789.1:p.Ser847GlnfsTer15
NM_002016.1:c.2539del , LRG_1028t1:c.2539del NP_002007.1:p.Ser847GlnfsTer15
XM_011509329.1:c.2539del XP_011507631.1:p.Ser847GlnfsTer15
NM_002016.2:c.2539del MANE Select NP_002007.1:p.Ser847GlnfsTer15
Search 100 bp 5'
Search 100 bp 3'