Canonical Allele Identifier: CA126361
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 16320
ClinVar RCV Id: RCV000017714 RCV000017715 RCV000191085 RCV000256057 RCV000678372 RCV000709934 RCV001270060 RCV003335042 RCV003398531
dbSNP Id: rs558269137
ExAC: 1:152285076 CACTG / C
gnomAD v2: 1-152285076-CACTG-C
gnomAD v3: 1-152312600-CACTG-C
gnomAD v4: 1-152312600-CACTG-C
COSMIC: COSM1683787
MyVariant Identifiers: chr1:g.152285077_152285080del (hg19) chr1:g.152312602_152312605del (hg38) chr1:g.152312601_152312604del (hg38)
PubMed: PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:18325573 PMID:19501237 PMID:19538357 PMID:19733298 PMID:19839980 PMID:20573035 PMID:21365004 PMID:21377035 PMID:21564328 PMID:21777221 PMID:22403702 PMID:23039796 PMID:23166590 PMID:23343419 PMID:23947670 PMID:24088041 PMID:26633545
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312605_152312608del , CM000663.2:g.152312605_152312608del GRCh38
NC_000001.10:g.152285081_152285084del , CM000663.1:g.152285081_152285084del GRCh37
NC_000001.9:g.150551705_150551708del NCBI36
NG_016190.1:g.17600_17603del , LRG_1028:g.17600_17603del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.2282_2285del MANE Select ENSP00000357789.1:p.Ser761CysfsTer?
ENST00000368799.1:c.2282_2285del ENSP00000357789.1:p.Ser761CysfsTer?
NM_002016.1:c.2282_2285del , LRG_1028t1:c.2282_2285del NP_002007.1:p.Ser761CysfsTer?
XM_011509329.1:c.2282_2285del XP_011507631.1:p.Ser761CysfsTer?
NM_002016.2:c.2282_2285del MANE Select NP_002007.1:p.Ser761CysfsTer?
Search 100 bp 5'
Search 100 bp 3'