Canonical Allele Identifier: CA783257036

Gene: PRKCSH

Linked Data

• ClinVar Variation Id: 1900853
• ClinVar RCV Id: RCV002576533
• dbSNP Id: rs770888874
• gnomAD v3: 19-11447555-GGAAGAAGAGGCT-G
• gnomAD v4: 19-11447555-GGAAGAAGAGGCT-G
• MyVariant Identifiers: chr19:g.11558371_11558382del (hg19) ; chr19:g.11447556_11447567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447566_11447577del , CM000681.2:g.11447566_11447577del	GRCh38
NC_000019.9:g.11558381_11558392del , CM000681.1:g.11558381_11558392del	GRCh37
NC_000019.8:g.11419381_11419392del	NCBI36
NG_009300.1:g.17113_17124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.977_988del	ENSP00000465489.1:p.Ala326_Glu329del
ENST00000677123.1:c.977_988del MANE Select	ENSP00000503163.1:p.Ala326_Glu329del
ENST00000585325.5:n.250_261del
ENST00000585540.1:n.168_179del
ENST00000587327.5:c.977_988del	ENSP00000466012.1:p.Ala326_Glu329del
ENST00000589838.5:c.977_988del	ENSP00000465461.1:p.Ala326_Glu329del
ENST00000591462.5:c.977_988del	ENSP00000465489.1:p.Ala326_Glu329del
ENST00000592445.1:n.224_235del
ENST00000592741.5:c.977_988del	ENSP00000466134.1:p.Ala326_Glu329del
NM_001001329.2:c.977_988del	NP_001001329.1:p.Ala326_Glu329del
NM_001289102.1:c.977_988del	NP_001276031.1:p.Ala326_Glu329del
NM_001289103.1:c.977_988del	NP_001276032.1:p.Ala326_Glu329del
NM_001289104.1:c.977_988del	NP_001276033.1:p.Ala326_Glu329del
NM_002743.3:c.977_988del	NP_002734.2:p.Ala326_Glu329del
XM_011528130.1:c.977_988del	XP_011526432.1:p.Ala326_Glu329del
XM_011528131.1:c.977_988del	XP_011526433.1:p.Ala326_Glu329del
XM_011528132.1:c.977_988del	XP_011526434.1:p.Ala326_Glu329del
XM_017026977.2:c.977_988del	XP_016882466.1:p.Ala326_Glu329del
XM_024451602.1:c.977_988del	XP_024307370.1:p.Ala326_Glu329del
NM_001001329.3:c.977_988del	NP_001001329.1:p.Ala326_Glu329del
NM_001289102.2:c.977_988del	NP_001276031.1:p.Ala326_Glu329del
NM_001289103.2:c.977_988del	NP_001276032.1:p.Ala326_Glu329del
NM_001289104.2:c.977_988del MANE Select	NP_001276033.1:p.Ala326_Glu329del
NM_001379608.1:c.977_988del	NP_001366537.1:p.Ala326_Glu329del
NM_001379609.1:c.977_988del	NP_001366538.1:p.Ala326_Glu329del