Canonical Allele Identifier: CA2735473393

Gene: PRKCSH

Linked Data

• dbSNP Id: rs2144847259

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447541_11447542insCGG , CM000681.2:g.11447541_11447542insCGG	GRCh38
NC_000019.9:g.11558356_11558357insCGG , CM000681.1:g.11558356_11558357insCGG	GRCh37
NC_000019.8:g.11419356_11419357insCGG	NCBI36
NG_009300.1:g.17088_17089insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.952_953insCGG	ENSP00000465489.1:p.Glu317_Glu318insAla
ENST00000677123.1:c.952_953insCGG MANE Select	ENSP00000503163.1:p.Glu317_Glu318insAla
ENST00000585325.5:n.225_226insCGG
ENST00000585540.1:n.143_144insCGG
ENST00000587327.5:c.952_953insCGG	ENSP00000466012.1:p.Glu317_Glu318insAla
ENST00000589838.5:c.952_953insCGG	ENSP00000465461.1:p.Glu317_Glu318insAla
ENST00000591462.5:c.952_953insCGG	ENSP00000465489.1:p.Glu317_Glu318insAla
ENST00000592445.1:n.199_200insCGG
ENST00000592741.5:c.952_953insCGG	ENSP00000466134.1:p.Glu317_Glu318insAla
NM_001001329.2:c.952_953insCGG	NP_001001329.1:p.Glu317_Glu318insAla
NM_001289102.1:c.952_953insCGG	NP_001276031.1:p.Glu317_Glu318insAla
NM_001289103.1:c.952_953insCGG	NP_001276032.1:p.Glu317_Glu318insAla
NM_001289104.1:c.952_953insCGG	NP_001276033.1:p.Glu317_Glu318insAla
NM_002743.3:c.952_953insCGG	NP_002734.2:p.Glu317_Glu318insAla
XM_011528130.1:c.952_953insCGG	XP_011526432.1:p.Glu317_Glu318insAla
XM_011528131.1:c.952_953insCGG	XP_011526433.1:p.Glu317_Glu318insAla
XM_011528132.1:c.952_953insCGG	XP_011526434.1:p.Glu317_Glu318insAla
XM_017026977.2:c.952_953insCGG	XP_016882466.1:p.Glu317_Glu318insAla
XM_024451602.1:c.952_953insCGG	XP_024307370.1:p.Glu317_Glu318insAla
NM_001001329.3:c.952_953insCGG	NP_001001329.1:p.Glu317_Glu318insAla
NM_001289102.2:c.952_953insCGG	NP_001276031.1:p.Glu317_Glu318insAla
NM_001289103.2:c.952_953insCGG	NP_001276032.1:p.Glu317_Glu318insAla
NM_001289104.2:c.952_953insCGG MANE Select	NP_001276033.1:p.Glu317_Glu318insAla
NM_001379608.1:c.952_953insCGG	NP_001366537.1:p.Glu317_Glu318insAla
NM_001379609.1:c.952_953insCGG	NP_001366538.1:p.Glu317_Glu318insAla