Canonical Allele Identifier: CA10575992
Gene: FLAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224734
ClinVar RCV Id: RCV000223946
dbSNP Id: rs876661315
gnomAD v4: 1-154988229-TC-T
MyVariant Identifiers: chr1:g.154960706del (hg19) chr1:g.154988230del (hg38)
PubMed: PMID:27259049
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154988230del , CM000663.2:g.154988230del GRCh38
NC_000001.10:g.154960706del , CM000663.1:g.154960706del GRCh37
NC_000001.9:g.153227330del NCBI36
NG_042310.1:g.9937del

Transcript Alleles

HGVS Amino-acid change
ENST00000292180.8:c.498del MANE Select ENSP00000292180.3:p.Ser167ProfsTer20
ENST00000292180.7:c.498del ENSP00000292180.3:p.Ser167ProfsTer20
ENST00000295530.6:c.-304del ENSP00000295530.2:n.-304del
ENST00000315144.14:c.207del ENSP00000317296.10:p.Ser70ProfsTer20
ENST00000368431.7:c.201del ENSP00000357416.3:p.Ser68ProfsTer20
ENST00000368432.5:c.207del ENSP00000357417.1:p.Ser70ProfsTer20
ENST00000368433.5:c.498del ENSP00000357418.1:p.Ser167ProfsTer20
ENST00000487371.1:n.554del
NM_001184891.1:c.207del NP_001171820.1:p.Ser70ProfsTer20
NM_001184892.1:c.201del NP_001171821.1:p.Ser68ProfsTer20
NM_025207.4:c.498del NP_079483.3:p.Ser167ProfsTer20
NM_201398.2:c.207del NP_958800.1:p.Ser70ProfsTer20
XM_005245502.2:c.207del XP_005245559.1:p.Ser70ProfsTer20
XM_005245503.2:c.-304del XP_005245560.1:n.-304del
XM_006711559.2:c.207del XP_006711622.1:p.Ser70ProfsTer20
XR_241098.3:n.416del
NM_025207.5:c.498del MANE Select NP_079483.3:p.Ser167ProfsTer20
NM_001184891.2:c.207del NP_001171820.1:p.Ser70ProfsTer20
NM_001184892.2:c.201del NP_001171821.1:p.Ser68ProfsTer20
NM_201398.3:c.207del NP_958800.1:p.Ser70ProfsTer20
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