Canonical Allele Identifier: CA1139667635
Gene: PHKA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931918
ClinVar RCV Id: RCV001198923
dbSNP Id: rs2053626907

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667411_72667417del , CM000685.2:g.72667411_72667417del GRCh38
NC_000023.10:g.71887261_71887267del , CM000685.1:g.71887261_71887267del GRCh37
NC_000023.9:g.71803986_71803992del NCBI36
NG_016599.1:g.51766_51772del
NG_016599.2:g.51768_51774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373542.9:c.678_684del MANE Select ENSP00000362643.4:p.Val227MetfsTer14
ENST00000339490.7:c.678_684del ENSP00000342469.3:p.Val227MetfsTer14
ENST00000373539.3:c.678_684del ENSP00000362640.3:p.Val227MetfsTer14
ENST00000373542.8:c.678_684del ENSP00000362643.4:p.Val227MetfsTer14
ENST00000373545.7:c.678_684del ENSP00000362646.3:p.Val227MetfsTer14
ENST00000541944.5:c.678_684del ENSP00000441251.1:p.Val227MetfsTer14
NM_001122670.1:c.678_684del NP_001116142.1:p.Val227MetfsTer14
NM_001172436.1:c.678_684del NP_001165907.1:p.Val227MetfsTer14
NM_002637.3:c.678_684del NP_002628.2:p.Val227MetfsTer14
XM_006724661.2:c.678_684del XP_006724724.1:p.Val227MetfsTer14
XR_001755696.1:n.821_827del
NM_002637.4:c.678_684del MANE Select NP_002628.2:p.Val227MetfsTer14
NM_001122670.2:c.678_684del NP_001116142.1:p.Val227MetfsTer14
NM_001172436.2:c.678_684del NP_001165907.1:p.Val227MetfsTer14