Canonical Allele Identifier: CA632117112

Gene: PRKCSH

Linked Data

• dbSNP Id: rs1568369146
• gnomAD v2: 19-11558388-A-AGAGGAGGAGGAGGAGGATTCC
• gnomAD v4: 19-11447573-A-AGAGGAGGAGGAGGAGGATTCC
• MyVariant Identifiers: chr19:g.11558394_11558395insGAGGAGGAGGATTCCGAGGAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447578_11447598dup , CM000681.2:g.11447578_11447598dup	GRCh38
NC_000019.9:g.11558393_11558413dup , CM000681.1:g.11558393_11558413dup	GRCh37
NC_000019.8:g.11419393_11419413dup	NCBI36
NG_009300.1:g.17125_17145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.989_1009dup	ENSP00000465489.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
ENST00000677123.1:c.989_1009dup MANE Select	ENSP00000503163.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
ENST00000585325.5:n.262_282dup
ENST00000585540.1:n.180_200dup
ENST00000586486.1:c.14_34dup	ENSP00000465948.1:p.Glu11_Val12insGluGluGluGluAspSerGlu
ENST00000587327.5:c.989_1009dup	ENSP00000466012.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
ENST00000589838.5:c.989_1008+1dup
ENST00000591462.5:c.989_1009dup	ENSP00000465489.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
ENST00000592445.1:n.236_256dup
ENST00000592741.5:c.989_1009dup	ENSP00000466134.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001001329.2:c.989_1009dup	NP_001001329.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289102.1:c.989_1009dup	NP_001276031.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289103.1:c.989_1009dup	NP_001276032.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289104.1:c.989_1009dup	NP_001276033.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_002743.3:c.989_1008+1dup
XM_011528130.1:c.989_1009dup	XP_011526432.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
XM_011528131.1:c.989_1008+1dup
XM_011528132.1:c.989_1009dup	XP_011526434.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
XM_017026977.2:c.989_1008+1dup
XM_024451602.1:c.989_1009dup	XP_024307370.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001001329.3:c.989_1009dup	NP_001001329.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289102.2:c.989_1009dup	NP_001276031.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289103.2:c.989_1009dup	NP_001276032.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001289104.2:c.989_1009dup MANE Select	NP_001276033.1:p.Glu336_Val337insGluGluGluGluAspSerGlu
NM_001379608.1:c.989_1008+1dup
NM_001379609.1:c.989_1009dup	NP_001366538.1:p.Glu336_Val337insGluGluGluGluAspSerGlu