Canonical Allele Identifier: CA1103390
Gene: FLG HGNC NCBI

Linked Data

ExAC: 1:152277006 TTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCC / T
gnomAD v2: 1-152277006-TTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCC-T
gnomAD v3: 1-152304530-TTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCC-T
gnomAD v4: 1-152304530-TTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCC-T
MyVariant Identifiers: chr1:g.152277007_152277111del (hg19) chr1:g.152304531_152304635del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304538_152304642del , CM000663.2:g.152304538_152304642del GRCh38
NC_000001.10:g.152277014_152277118del , CM000663.1:g.152277014_152277118del GRCh37
NC_000001.9:g.150543638_150543742del NCBI36
NG_016190.1:g.25569_25673del , LRG_1028:g.25569_25673del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.10251_10355del MANE Select ENSP00000357789.1:p.Ala3418_Gln3452del
ENST00000368799.1:c.10251_10355del ENSP00000357789.1:p.Ala3418_Gln3452del
NM_002016.1:c.10251_10355del , LRG_1028t1:c.10251_10355del NP_002007.1:p.Ala3418_Gln3452del
XM_011509329.1:c.9109-802_9109-698del XP_011507631.1:n.9109-802_9109-698del
NM_002016.2:c.10251_10355del MANE Select NP_002007.1:p.Ala3418_Gln3452del
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