Canonical Allele Identifier: CA1104960
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 419605
ClinVar RCV Id: RCV000484342 RCV001782963 RCV001809432 RCV002506166
dbSNP Id: rs578184315
ExAC: 1:152280404 CATGGGATG / C
gnomAD v2: 1-152280404-CATGGGATG-C
gnomAD v3: 1-152307928-CATGGGATG-C
gnomAD v4: 1-152307928-CATGGGATG-C
MyVariant Identifiers: chr1:g.152280405_152280412del (hg19) chr1:g.152307929_152307936del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307932_152307939del , CM000663.2:g.152307932_152307939del GRCh38
NC_000001.10:g.152280408_152280415del , CM000663.1:g.152280408_152280415del GRCh37
NC_000001.9:g.150547032_150547039del NCBI36
NG_016190.1:g.22268_22275del , LRG_1028:g.22268_22275del

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.6950_6957del MANE Select ENSP00000357789.1:p.Ser2317Ter
ENST00000368799.1:c.6950_6957del ENSP00000357789.1:p.Ser2317Ter
NM_002016.1:c.6950_6957del , LRG_1028t1:c.6950_6957del NP_002007.1:p.Ser2317Ter
XM_011509329.1:c.6950_6957del XP_011507631.1:p.Ser2317Ter
NM_002016.2:c.6950_6957del MANE Select NP_002007.1:p.Ser2317Ter
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