Canonical Allele Identifier: CA1104849
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs750848650
ExAC: 1:152280146 CTG / C
gnomAD v2: 1-152280146-CTG-C
gnomAD v3: 1-152307670-CTG-C
gnomAD v4: 1-152307670-CTG-C
MyVariant Identifiers: chr1:g.152280147_152280148del (hg19) chr1:g.152307671_152307672del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307671_152307672del , CM000663.2:g.152307671_152307672del GRCh38
NC_000001.10:g.152280147_152280148del , CM000663.1:g.152280147_152280148del GRCh37
NC_000001.9:g.150546771_150546772del NCBI36
NG_016190.1:g.22532_22533del , LRG_1028:g.22532_22533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7214_7215del MANE Select ENSP00000357789.1:p.Ala2405GlyfsTer17
ENST00000368799.1:c.7214_7215del ENSP00000357789.1:p.Ala2405GlyfsTer17
NM_002016.1:c.7214_7215del , LRG_1028t1:c.7214_7215del NP_002007.1:p.Ala2405GlyfsTer17
XM_011509329.1:c.7214_7215del XP_011507631.1:p.Ala2405GlyfsTer17
NM_002016.2:c.7214_7215del MANE Select NP_002007.1:p.Ala2405GlyfsTer17
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