Canonical Allele Identifier: CA1105395
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs768392276
ExAC: 1:152281215 T / TC
gnomAD v2: 1-152281215-T-TC
gnomAD v4: 1-152308739-T-TC
MyVariant Identifiers: chr1:g.152281215_152281216insC (hg19) chr1:g.152308739_152308740insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308742dup , CM000663.2:g.152308742dup GRCh38
NC_000001.10:g.152281218dup , CM000663.1:g.152281218dup GRCh37
NC_000001.9:g.150547842dup NCBI36
NG_016190.1:g.21464dup , LRG_1028:g.21464dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6146dup MANE Select ENSP00000357789.1:p.His2050ThrfsTer?
ENST00000368799.1:c.6146dup ENSP00000357789.1:p.His2050ThrfsTer?
NM_002016.1:c.6146dup , LRG_1028t1:c.6146dup NP_002007.1:p.His2050ThrfsTer?
XM_011509329.1:c.6146dup XP_011507631.1:p.His2050ThrfsTer?
NM_002016.2:c.6146dup MANE Select NP_002007.1:p.His2050ThrfsTer?
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