Canonical Allele Identifier: CA1105347
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs758330162
ExAC: 1:152281120 C / CTG
gnomAD v2: 1-152281120-C-CTG
gnomAD v4: 1-152308644-C-CTG
MyVariant Identifiers: chr1:g.152281120_152281121insTG (hg19) chr1:g.152308644_152308645insTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308644_152308645insTG , CM000663.2:g.152308644_152308645insTG GRCh38
NC_000001.10:g.152281120_152281121insTG , CM000663.1:g.152281120_152281121insTG GRCh37
NC_000001.9:g.150547744_150547745insTG NCBI36
NG_016190.1:g.21559_21560insCA , LRG_1028:g.21559_21560insCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6241_6242insCA MANE Select ENSP00000357789.1:p.Gly2081AlafsTer15
ENST00000368799.1:c.6241_6242insCA ENSP00000357789.1:p.Gly2081AlafsTer15
NM_002016.1:c.6241_6242insCA , LRG_1028t1:c.6241_6242insCA NP_002007.1:p.Gly2081AlafsTer15
XM_011509329.1:c.6241_6242insCA XP_011507631.1:p.Gly2081AlafsTer15
NM_002016.2:c.6241_6242insCA MANE Select NP_002007.1:p.Gly2081AlafsTer15
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