Canonical Allele Identifier: CA2647993569
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152305031-T-TCGTGGTGGTACCCCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305032_152305033insGTGGTGGTACCCCTGC , CM000663.2:g.152305032_152305033insGTGGTGGTACCCCTGC GRCh38
NC_000001.10:g.152277508_152277509insGTGGTGGTACCCCTGC , CM000663.1:g.152277508_152277509insGTGGTGGTACCCCTGC GRCh37
NC_000001.9:g.150544132_150544133insGTGGTGGTACCCCTGC NCBI36
NG_016190.1:g.25172_25173insCAGGGGTACCACCACG , LRG_1028:g.25172_25173insCAGGGGTACCACCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9854_9855insCAGGGGTACCACCACG MANE Select ENSP00000357789.1:p.Gln3286ArgfsTer12
ENST00000368799.1:c.9854_9855insCAGGGGTACCACCACG ENSP00000357789.1:p.Gln3286ArgfsTer12
NM_002016.1:c.9854_9855insCAGGGGTACCACCACG , LRG_1028t1:c.9854_9855insCAGGGGTACCACCACG NP_002007.1:p.Gln3286ArgfsTer12
XM_011509329.1:c.9108+746_9108+747insCAGGGGTACCACCACG XP_011507631.1:n.9108+746_9108+747insCAGGGGTACCACCACG
NM_002016.2:c.9854_9855insCAGGGGTACCACCACG MANE Select NP_002007.1:p.Gln3286ArgfsTer12
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