Canonical Allele Identifier: CA2604727345
Gene: FLG HGNC NCBI

Linked Data

gnomAD v3: 1-152304572-CGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCT-C
gnomAD v4: 1-152304572-CGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304573_152304653del , CM000663.2:g.152304573_152304653del GRCh38
NC_000001.10:g.152277049_152277129del , CM000663.1:g.152277049_152277129del GRCh37
NC_000001.9:g.150543673_150543753del NCBI36
NG_016190.1:g.25551_25631del , LRG_1028:g.25551_25631del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.10233_10313del MANE Select ENSP00000357789.1:p.Gly3412_Pro3438del
ENST00000368799.1:c.10233_10313del ENSP00000357789.1:p.Gly3412_Pro3438del
NM_002016.1:c.10233_10313del , LRG_1028t1:c.10233_10313del NP_002007.1:p.Gly3412_Pro3438del
XM_011509329.1:c.9109-820_9109-740del XP_011507631.1:n.9109-820_9109-740del
NM_002016.2:c.10233_10313del MANE Select NP_002007.1:p.Gly3412_Pro3438del
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