Canonical Allele Identifier: CA2322940367

Gene: PRKCSH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447590_11447605delinsATTCCGAGGTGCAGGG , CM000681.2:g.11447590_11447605delinsATTCCGAGGTGCAGGG	GRCh38
NC_000019.9:g.11558405_11558420delinsATTCCGAGGTGCAGGG , CM000681.1:g.11558405_11558420delinsATTCCGAGGTGCAGGG	GRCh37
NC_000019.8:g.11419405_11419420delinsATTCCGAGGTGCAGGG	NCBI36
NG_009300.1:g.17137_17152delinsATTCCGAGGTGCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.1001_1016delinsATTCCGAGGTGCAGGG	ENSP00000465489.1:p.Asp334=
ENST00000677123.1:c.1001_1016delinsATTCCGAGGTGCAGGG MANE Select	ENSP00000503163.1:p.Asp334=
ENST00000585325.5:n.274_289delinsATTCCGAGGTGCAGGG
ENST00000585540.1:n.192_207delinsATTCCGAGGTGCAGGG
ENST00000586486.1:c.26_41delinsATTCCGAGGTGCAGGG	ENSP00000465948.1:p.Asp9=
ENST00000587327.5:c.1001_1016delinsATTCCGAGGTGCAGGG	ENSP00000466012.1:p.Asp334=
ENST00000589838.5:c.1001_1008+8delinsATTCCGAGGTGCAGGG
ENST00000591462.5:c.1001_1016delinsATTCCGAGGTGCAGGG	ENSP00000465489.1:p.Asp334=
ENST00000592445.1:n.248_263delinsATTCCGAGGTGCAGGG
ENST00000592741.5:c.1001_1016delinsATTCCGAGGTGCAGGG	ENSP00000466134.1:p.Asp334=
NM_001001329.2:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001001329.1:p.Asp334=
NM_001289102.1:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001276031.1:p.Asp334=
NM_001289103.1:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001276032.1:p.Asp334=
NM_001289104.1:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001276033.1:p.Asp334=
NM_002743.3:c.1001_1008+8delinsATTCCGAGGTGCAGGG
XM_011528130.1:c.1001_1016delinsATTCCGAGGTGCAGGG	XP_011526432.1:p.Asp334=
XM_011528131.1:c.1001_1008+8delinsATTCCGAGGTGCAGGG
XM_011528132.1:c.1001_1016delinsATTCCGAGGTGCAGGG	XP_011526434.1:p.Asp334=
XM_017026977.2:c.1001_1008+8delinsATTCCGAGGTGCAGGG
XM_024451602.1:c.1001_1016delinsATTCCGAGGTGCAGGG	XP_024307370.1:p.Asp334=
NM_001001329.3:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001001329.1:p.Asp334=
NM_001289102.2:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001276031.1:p.Asp334=
NM_001289103.2:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001276032.1:p.Asp334=
NM_001289104.2:c.1001_1016delinsATTCCGAGGTGCAGGG MANE Select	NP_001276033.1:p.Asp334=
NM_001379608.1:c.1001_1008+8delinsATTCCGAGGTGCAGGG
NM_001379609.1:c.1001_1016delinsATTCCGAGGTGCAGGG	NP_001366538.1:p.Asp334=