Canonical Allele Identifier: CA1106216
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs751085109
ExAC: 1:152282909 C / CACGAATGGT
gnomAD v2: 1-152282909-C-CACGAATGGT
gnomAD v3: 1-152310433-C-CACGAATGGT
gnomAD v4: 1-152310433-C-CACGAATGGT
MyVariant Identifiers: chr1:g.152282909_152282910insACGAATGGT (hg19) chr1:g.152310433_152310434insACGAATGGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310433_152310434insACGAATGGT , CM000663.2:g.152310433_152310434insACGAATGGT GRCh38
NC_000001.10:g.152282909_152282910insACGAATGGT , CM000663.1:g.152282909_152282910insACGAATGGT GRCh37
NC_000001.9:g.150549533_150549534insACGAATGGT NCBI36
NG_016190.1:g.19770_19771insACCATTCGT , LRG_1028:g.19770_19771insACCATTCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4452_4453insACCATTCGT MANE Select ENSP00000357789.1:p.Asp1484_Gly1485insThrIleArg
ENST00000368799.1:c.4452_4453insACCATTCGT ENSP00000357789.1:p.Asp1484_Gly1485insThrIleArg
NM_002016.1:c.4452_4453insACCATTCGT , LRG_1028t1:c.4452_4453insACCATTCGT NP_002007.1:p.Asp1484_Gly1485insThrIleArg
XM_011509329.1:c.4452_4453insACCATTCGT XP_011507631.1:p.Asp1484_Gly1485insThrIleArg
NM_002016.2:c.4452_4453insACCATTCGT MANE Select NP_002007.1:p.Asp1484_Gly1485insThrIleArg
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