Canonical Allele Identifier: CA2322940152

Gene: PRKCSH

Linked Data

• dbSNP Id: rs1970352508
• gnomAD v4: 19-11447279-GCACCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447284_11447290del , CM000681.2:g.11447284_11447290del	GRCh38
NC_000019.9:g.11558099_11558105del , CM000681.1:g.11558099_11558105del	GRCh37
NC_000019.8:g.11419099_11419105del	NCBI36
NG_009300.1:g.16831_16837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.849+124_849+130del	ENSP00000465489.1:n.849+124_849+130del
ENST00000677123.1:c.849+124_849+130del MANE Select	ENSP00000503163.1:n.849+124_849+130del
ENST00000585325.5:n.122+124_122+130del
ENST00000585540.1:n.40+124_40+130del
ENST00000587327.5:c.849+124_849+130del	ENSP00000466012.1:n.849+124_849+130del
ENST00000589838.5:c.849+124_849+130del	ENSP00000465461.1:n.849+124_849+130del
ENST00000591462.5:c.849+124_849+130del	ENSP00000465489.1:n.849+124_849+130del
ENST00000592445.1:n.96+124_96+130del
ENST00000592741.5:c.849+124_849+130del	ENSP00000466134.1:n.849+124_849+130del
NM_001001329.2:c.849+124_849+130del	NP_001001329.1:n.849+124_849+130del
NM_001289102.1:c.849+124_849+130del	NP_001276031.1:n.849+124_849+130del
NM_001289103.1:c.849+124_849+130del	NP_001276032.1:n.849+124_849+130del
NM_001289104.1:c.849+124_849+130del	NP_001276033.1:n.849+124_849+130del
NM_002743.3:c.849+124_849+130del	NP_002734.2:n.849+124_849+130del
XM_011528130.1:c.849+124_849+130del	XP_011526432.1:n.849+124_849+130del
XM_011528131.1:c.849+124_849+130del	XP_011526433.1:n.849+124_849+130del
XM_011528132.1:c.849+124_849+130del	XP_011526434.1:n.849+124_849+130del
XM_017026977.2:c.849+124_849+130del	XP_016882466.1:n.849+124_849+130del
XM_024451602.1:c.849+124_849+130del	XP_024307370.1:n.849+124_849+130del
NM_001001329.3:c.849+124_849+130del	NP_001001329.1:n.849+124_849+130del
NM_001289102.2:c.849+124_849+130del	NP_001276031.1:n.849+124_849+130del
NM_001289103.2:c.849+124_849+130del	NP_001276032.1:n.849+124_849+130del
NM_001289104.2:c.849+124_849+130del MANE Select	NP_001276033.1:n.849+124_849+130del
NM_001379608.1:c.849+124_849+130del	NP_001366537.1:n.849+124_849+130del
NM_001379609.1:c.849+124_849+130del	NP_001366538.1:n.849+124_849+130del