Canonical Allele Identifier: CA305355924
Gene: PRKCSH HGNC NCBI

Linked Data

ClinVar Variation Id: 2059757
ClinVar RCV Id: RCV002957251
dbSNP Id: rs3217229

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11447552_11447557dup , CM000681.2:g.11447552_11447557dup GRCh38
NC_000019.9:g.11558367_11558372dup , CM000681.1:g.11558367_11558372dup GRCh37
NC_000019.8:g.11419367_11419372dup NCBI36
NG_009300.1:g.17099_17104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000591462.6:c.963_968dup ENSP00000465489.1:p.Glu323_Glu324insGluGlu
ENST00000677123.1:c.963_968dup MANE Select ENSP00000503163.1:p.Glu323_Glu324insGluGlu
ENST00000585325.5:n.236_241dup
ENST00000585540.1:n.154_159dup
ENST00000587327.5:c.963_968dup ENSP00000466012.1:p.Glu323_Glu324insGluGlu
ENST00000589838.5:c.963_968dup ENSP00000465461.1:p.Glu323_Glu324insGluGlu
ENST00000591462.5:c.963_968dup ENSP00000465489.1:p.Glu323_Glu324insGluGlu
ENST00000592445.1:n.210_215dup
ENST00000592741.5:c.963_968dup ENSP00000466134.1:p.Glu323_Glu324insGluGlu
NM_001001329.2:c.963_968dup NP_001001329.1:p.Glu323_Glu324insGluGlu
NM_001289102.1:c.963_968dup NP_001276031.1:p.Glu323_Glu324insGluGlu
NM_001289103.1:c.963_968dup NP_001276032.1:p.Glu323_Glu324insGluGlu
NM_001289104.1:c.963_968dup NP_001276033.1:p.Glu323_Glu324insGluGlu
NM_002743.3:c.963_968dup NP_002734.2:p.Glu323_Glu324insGluGlu
XM_011528130.1:c.963_968dup XP_011526432.1:p.Glu323_Glu324insGluGlu
XM_011528131.1:c.963_968dup XP_011526433.1:p.Glu323_Glu324insGluGlu
XM_011528132.1:c.963_968dup XP_011526434.1:p.Glu323_Glu324insGluGlu
XM_017026977.2:c.963_968dup XP_016882466.1:p.Glu323_Glu324insGluGlu
XM_024451602.1:c.963_968dup XP_024307370.1:p.Glu323_Glu324insGluGlu
NM_001001329.3:c.963_968dup NP_001001329.1:p.Glu323_Glu324insGluGlu
NM_001289102.2:c.963_968dup NP_001276031.1:p.Glu323_Glu324insGluGlu
NM_001289103.2:c.963_968dup NP_001276032.1:p.Glu323_Glu324insGluGlu
NM_001289104.2:c.963_968dup MANE Select NP_001276033.1:p.Glu323_Glu324insGluGlu
NM_001379608.1:c.963_968dup NP_001366537.1:p.Glu323_Glu324insGluGlu
NM_001379609.1:c.963_968dup NP_001366538.1:p.Glu323_Glu324insGluGlu