Canonical Allele Identifier: CA526662124
Gene: FLG HGNC NCBI

Linked Data

gnomAD v2: 1-152277431-CTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAG-C
MyVariant Identifiers: chr1:g.152277432_152277564del (hg19) chr1:g.152304956_152305088del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304959_152305091del , CM000663.2:g.152304959_152305091del GRCh38
NC_000001.10:g.152277435_152277567del , CM000663.1:g.152277435_152277567del GRCh37
NC_000001.9:g.150544059_150544191del NCBI36
NG_016190.1:g.25116_25248del , LRG_1028:g.25116_25248del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9798_9930del MANE Select ENSP00000357789.1:p.His3266GlnfsTer?
ENST00000368799.1:c.9798_9930del ENSP00000357789.1:p.His3266GlnfsTer?
NM_002016.1:c.9798_9930del , LRG_1028t1:c.9798_9930del NP_002007.1:p.His3266GlnfsTer?
XM_011509329.1:c.9108+690_9108+822del XP_011507631.1:n.9108+690_9108+822del
NM_002016.2:c.9798_9930del MANE Select NP_002007.1:p.His3266GlnfsTer?
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