Canonical Allele Identifier: CA632117113

Gene: PRKCSH

Linked Data

• dbSNP Id: rs1393039014
• gnomAD v2: 19-11558399-A-AGGG
• gnomAD v3: 19-11447584-A-AGGG
• gnomAD v4: 19-11447584-A-AGGG
• MyVariant Identifiers: chr19:g.11558399_11558400insGGG (hg19) ; chr19:g.11447584_11447585insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447586_11447587insGGG , CM000681.2:g.11447586_11447587insGGG	GRCh38
NC_000019.9:g.11558401_11558402insGGG , CM000681.1:g.11558401_11558402insGGG	GRCh37
NC_000019.8:g.11419401_11419402insGGG	NCBI36
NG_009300.1:g.17133_17134insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.997_998insGGG	ENSP00000465489.1:p.Glu332_Glu333insGly
ENST00000677123.1:c.997_998insGGG MANE Select	ENSP00000503163.1:p.Glu332_Glu333insGly
ENST00000585325.5:n.270_271insGGG
ENST00000585540.1:n.188_189insGGG
ENST00000586486.1:c.22_23insGGG	ENSP00000465948.1:p.Glu7_Glu8insGly
ENST00000587327.5:c.997_998insGGG	ENSP00000466012.1:p.Glu332_Glu333insGly
ENST00000589838.5:c.997_998insGGG	ENSP00000465461.1:p.Glu332_Glu333insGly
ENST00000591462.5:c.997_998insGGG	ENSP00000465489.1:p.Glu332_Glu333insGly
ENST00000592445.1:n.244_245insGGG
ENST00000592741.5:c.997_998insGGG	ENSP00000466134.1:p.Glu332_Glu333insGly
NM_001001329.2:c.997_998insGGG	NP_001001329.1:p.Glu332_Glu333insGly
NM_001289102.1:c.997_998insGGG	NP_001276031.1:p.Glu332_Glu333insGly
NM_001289103.1:c.997_998insGGG	NP_001276032.1:p.Glu332_Glu333insGly
NM_001289104.1:c.997_998insGGG	NP_001276033.1:p.Glu332_Glu333insGly
NM_002743.3:c.997_998insGGG	NP_002734.2:p.Glu332_Glu333insGly
XM_011528130.1:c.997_998insGGG	XP_011526432.1:p.Glu332_Glu333insGly
XM_011528131.1:c.997_998insGGG	XP_011526433.1:p.Glu332_Glu333insGly
XM_011528132.1:c.997_998insGGG	XP_011526434.1:p.Glu332_Glu333insGly
XM_017026977.2:c.997_998insGGG	XP_016882466.1:p.Glu332_Glu333insGly
XM_024451602.1:c.997_998insGGG	XP_024307370.1:p.Glu332_Glu333insGly
NM_001001329.3:c.997_998insGGG	NP_001001329.1:p.Glu332_Glu333insGly
NM_001289102.2:c.997_998insGGG	NP_001276031.1:p.Glu332_Glu333insGly
NM_001289103.2:c.997_998insGGG	NP_001276032.1:p.Glu332_Glu333insGly
NM_001289104.2:c.997_998insGGG MANE Select	NP_001276033.1:p.Glu332_Glu333insGly
NM_001379608.1:c.997_998insGGG	NP_001366537.1:p.Glu332_Glu333insGly
NM_001379609.1:c.997_998insGGG	NP_001366538.1:p.Glu332_Glu333insGly