Canonical Allele Identifier: CA339783
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29
ClinVar RCV Id: RCV000000046 RCV000815800 RCV003415590
dbSNP Id: rs397509360
ExAC: 10:99371368 TGAG / T
gnomAD v2: 10-99371368-TGAG-T
gnomAD v3: 10-97611611-TGAG-T
gnomAD v4: 10-97611611-TGAG-T
MyVariant Identifiers: chr10:g.99371376_99371378del (hg19) chr10:g.99371369_99371371del (hg19) chr10:g.97611619_97611621del (hg38) chr10:g.97611613_97611615del (hg38) chr10:g.97611612_97611614del (hg38)
PubMed: PMID:20797690 PMID:21896830 PMID:22391140 PMID:22771891 PMID:26401545
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611619_97611621del , CM000672.2:g.97611619_97611621del GRCh38
NC_000010.10:g.99371376_99371378del , CM000672.1:g.99371376_99371378del GRCh37
NC_000010.9:g.99361366_99361368del NCBI36
NG_027922.1:g.32275_32277del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.944_946del MANE Select ENSP00000359680.4:p.Glu315del
ENST00000370646.8:c.944_946del ENSP00000359680.4:p.Glu315del
ENST00000370647.8:c.455_457del ENSP00000359681.4:p.Glu152del
ENST00000370649.3:c.345+9629_345+9631del ENSP00000359683.3:n.345+9629_345+9631del
NM_001134670.1:c.455_457del NP_001128142.1:p.Glu152del
NM_138413.3:c.944_946del NP_612422.2:p.Glu315del
NM_138413.4:c.944_946del MANE Select NP_612422.2:p.Glu315del
NM_001134670.2:c.455_457del NP_001128142.1:p.Glu152del
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