Canonical Allele Identifier: CA9213089

Gene: PRKCSH

Linked Data

• dbSNP Id: rs746990528
• ExAC: 19:11558370 G / GGAA
• gnomAD v2: 19-11558370-G-GGAA
• gnomAD v3: 19-11447555-G-GGAA
• gnomAD v4: 19-11447555-G-GGAA
• MyVariant Identifiers: chr19:g.11558373_11558374insGAA (hg19) ; chr19:g.11558370_11558371insGAA (hg19) ; chr19:g.11447555_11447556insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447561_11447563dup , CM000681.2:g.11447561_11447563dup	GRCh38
NC_000019.9:g.11558376_11558378dup , CM000681.1:g.11558376_11558378dup	GRCh37
NC_000019.8:g.11419376_11419378dup	NCBI36
NG_009300.1:g.17108_17110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.972_974dup	ENSP00000465489.1:p.Glu325_Ala326insGlu
ENST00000677123.1:c.972_974dup MANE Select	ENSP00000503163.1:p.Glu325_Ala326insGlu
ENST00000585325.5:n.245_247dup
ENST00000585540.1:n.163_165dup
ENST00000587327.5:c.972_974dup	ENSP00000466012.1:p.Glu325_Ala326insGlu
ENST00000589838.5:c.972_974dup	ENSP00000465461.1:p.Glu325_Ala326insGlu
ENST00000591462.5:c.972_974dup	ENSP00000465489.1:p.Glu325_Ala326insGlu
ENST00000592445.1:n.219_221dup
ENST00000592741.5:c.972_974dup	ENSP00000466134.1:p.Glu325_Ala326insGlu
NM_001001329.2:c.972_974dup	NP_001001329.1:p.Glu325_Ala326insGlu
NM_001289102.1:c.972_974dup	NP_001276031.1:p.Glu325_Ala326insGlu
NM_001289103.1:c.972_974dup	NP_001276032.1:p.Glu325_Ala326insGlu
NM_001289104.1:c.972_974dup	NP_001276033.1:p.Glu325_Ala326insGlu
NM_002743.3:c.972_974dup	NP_002734.2:p.Glu325_Ala326insGlu
XM_011528130.1:c.972_974dup	XP_011526432.1:p.Glu325_Ala326insGlu
XM_011528131.1:c.972_974dup	XP_011526433.1:p.Glu325_Ala326insGlu
XM_011528132.1:c.972_974dup	XP_011526434.1:p.Glu325_Ala326insGlu
XM_017026977.2:c.972_974dup	XP_016882466.1:p.Glu325_Ala326insGlu
XM_024451602.1:c.972_974dup	XP_024307370.1:p.Glu325_Ala326insGlu
NM_001001329.3:c.972_974dup	NP_001001329.1:p.Glu325_Ala326insGlu
NM_001289102.2:c.972_974dup	NP_001276031.1:p.Glu325_Ala326insGlu
NM_001289103.2:c.972_974dup	NP_001276032.1:p.Glu325_Ala326insGlu
NM_001289104.2:c.972_974dup MANE Select	NP_001276033.1:p.Glu325_Ala326insGlu
NM_001379608.1:c.972_974dup	NP_001366537.1:p.Glu325_Ala326insGlu
NM_001379609.1:c.972_974dup	NP_001366538.1:p.Glu325_Ala326insGlu