Canonical Allele Identifier: CA1106333
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs757562290
ExAC: 1:152283164 CCTCA / C
gnomAD v2: 1-152283164-CCTCA-C
gnomAD v3: 1-152310688-CCTCA-C
gnomAD v4: 1-152310688-CCTCA-C
MyVariant Identifiers: chr1:g.152283165_152283168del (hg19) chr1:g.152310689_152310692del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310691_152310694del , CM000663.2:g.152310691_152310694del GRCh38
NC_000001.10:g.152283167_152283170del , CM000663.1:g.152283167_152283170del GRCh37
NC_000001.9:g.150549791_150549794del NCBI36
NG_016190.1:g.19512_19515del , LRG_1028:g.19512_19515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4194_4197del MANE Select ENSP00000357789.1:p.Ser1398ArgfsTer?
ENST00000368799.1:c.4194_4197del ENSP00000357789.1:p.Ser1398ArgfsTer?
NM_002016.1:c.4194_4197del , LRG_1028t1:c.4194_4197del NP_002007.1:p.Ser1398ArgfsTer?
XM_011509329.1:c.4194_4197del XP_011507631.1:p.Ser1398ArgfsTer?
NM_002016.2:c.4194_4197del MANE Select NP_002007.1:p.Ser1398ArgfsTer?
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