Canonical Allele Identifier: CA1007766399
Gene: FLG HGNC NCBI

Linked Data

gnomAD v3: 1-152307709-G-GT
gnomAD v4: 1-152307709-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307709_152307710insT , CM000663.2:g.152307709_152307710insT GRCh38
NC_000001.10:g.152280185_152280186insT , CM000663.1:g.152280185_152280186insT GRCh37
NC_000001.9:g.150546809_150546810insT NCBI36
NG_016190.1:g.22494_22495insA , LRG_1028:g.22494_22495insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7176_7177insA MANE Select ENSP00000357789.1:p.Gln2393ThrfsTer30
ENST00000368799.1:c.7176_7177insA ENSP00000357789.1:p.Gln2393ThrfsTer30
NM_002016.1:c.7176_7177insA , LRG_1028t1:c.7176_7177insA NP_002007.1:p.Gln2393ThrfsTer30
XM_011509329.1:c.7176_7177insA XP_011507631.1:p.Gln2393ThrfsTer30
NM_002016.2:c.7176_7177insA MANE Select NP_002007.1:p.Gln2393ThrfsTer30
Search 100 bp 5'
Search 100 bp 3'