Canonical Allele Identifier: CA632117115

Gene: PRKCSH

Linked Data

• dbSNP Id: rs1326820334
• gnomAD v2: 19-11558405-ATTCCGAGGTGCAGGG-A
• MyVariant Identifiers: chr19:g.11558406_11558420del (hg19) ; chr19:g.11447591_11447605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447591_11447605del , CM000681.2:g.11447591_11447605del	GRCh38
NC_000019.9:g.11558406_11558420del , CM000681.1:g.11558406_11558420del	GRCh37
NC_000019.8:g.11419406_11419420del	NCBI36
NG_009300.1:g.17138_17152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.1002_1016del	ENSP00000465489.1:p.Asp334_Gly339delinsGlu
ENST00000677123.1:c.1002_1016del MANE Select	ENSP00000503163.1:p.Asp334_Gly339delinsGlu
ENST00000585325.5:n.275_289del
ENST00000585540.1:n.193_207del
ENST00000586486.1:c.27_41del	ENSP00000465948.1:p.Asp9_Gly14delinsGlu
ENST00000587327.5:c.1002_1016del	ENSP00000466012.1:p.Asp334_Gly339delinsGlu
ENST00000589838.5:c.1002_1008+8del
ENST00000591462.5:c.1002_1016del	ENSP00000465489.1:p.Asp334_Gly339delinsGlu
ENST00000592445.1:n.249_263del
ENST00000592741.5:c.1002_1016del	ENSP00000466134.1:p.Asp334_Gly339delinsGlu
NM_001001329.2:c.1002_1016del	NP_001001329.1:p.Asp334_Gly339delinsGlu
NM_001289102.1:c.1002_1016del	NP_001276031.1:p.Asp334_Gly339delinsGlu
NM_001289103.1:c.1002_1016del	NP_001276032.1:p.Asp334_Gly339delinsGlu
NM_001289104.1:c.1002_1016del	NP_001276033.1:p.Asp334_Gly339delinsGlu
NM_002743.3:c.1002_1008+8del
XM_011528130.1:c.1002_1016del	XP_011526432.1:p.Asp334_Gly339delinsGlu
XM_011528131.1:c.1002_1008+8del
XM_011528132.1:c.1002_1016del	XP_011526434.1:p.Asp334_Gly339delinsGlu
XM_017026977.2:c.1002_1008+8del
XM_024451602.1:c.1002_1016del	XP_024307370.1:p.Asp334_Gly339delinsGlu
NM_001001329.3:c.1002_1016del	NP_001001329.1:p.Asp334_Gly339delinsGlu
NM_001289102.2:c.1002_1016del	NP_001276031.1:p.Asp334_Gly339delinsGlu
NM_001289103.2:c.1002_1016del	NP_001276032.1:p.Asp334_Gly339delinsGlu
NM_001289104.2:c.1002_1016del MANE Select	NP_001276033.1:p.Asp334_Gly339delinsGlu
NM_001379608.1:c.1002_1008+8del
NM_001379609.1:c.1002_1016del	NP_001366538.1:p.Asp334_Gly339delinsGlu