Canonical Allele Identifier: CA2608155928

Gene: PRKCQ

Linked Data

• gnomAD v4: 10-6430820-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6430822del , CM000672.2:g.6430822del	GRCh38
NC_000010.10:g.6472784del , CM000672.1:g.6472784del	GRCh37
NC_000010.9:g.6512790del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263125.10:c.1954del MANE Select	ENSP00000263125.5:p.Arg652GlyfsTer4
ENST00000263125.9:c.1954del	ENSP00000263125.5:p.Arg652GlyfsTer4
ENST00000397176.6:c.1765del	ENSP00000380361.2:p.Arg589GlyfsTer4
ENST00000539722.5:c.1579del	ENSP00000441752.1:p.Arg527GlyfsTer4
ENST00000610727.1:c.1846del	ENSP00000483428.1:p.Arg616GlyfsTer4
NM_001242413.2:c.1765del	NP_001229342.1:p.Arg589GlyfsTer4
NM_001282644.1:c.1846del	NP_001269573.1:p.Arg616GlyfsTer4
NM_001282645.1:c.1579del	NP_001269574.1:p.Arg527GlyfsTer4
NM_006257.4:c.1954del	NP_006248.1:p.Arg652GlyfsTer4
XM_005252496.3:c.2056del	XP_005252553.1:p.Arg686GlyfsTer4
XM_005252497.3:c.2056del	XP_005252554.1:p.Arg686GlyfsTer14
XM_006717465.2:c.1954del	XP_006717528.1:p.Arg652GlyfsTer4
XM_011519547.1:c.1954del	XP_011517849.1:p.Arg652GlyfsTer4
XM_011519548.1:c.1939-2459del	XP_011517850.1:n.1939-2459del
NM_001323265.1:c.1954del	NP_001310194.1:p.Arg652GlyfsTer4
NM_001323266.1:c.1579del	NP_001310195.1:p.Arg527GlyfsTer4
NM_001323267.1:c.1846del	NP_001310196.1:p.Arg616GlyfsTer14
XM_005252496.4:c.2056del	XP_005252553.1:p.Arg686GlyfsTer4
XM_005252497.4:c.2056del	XP_005252554.1:p.Arg686GlyfsTer14
XM_024448076.1:c.1954del	XP_024303844.1:p.Arg652GlyfsTer4
XM_024448077.1:c.1579del	XP_024303845.1:p.Arg527GlyfsTer4
NM_001282644.2:c.1846del	NP_001269573.1:p.Arg616GlyfsTer4
NM_001323266.2:c.1579del	NP_001310195.1:p.Arg527GlyfsTer4
NM_006257.5:c.1954del MANE Select	NP_006248.1:p.Arg652GlyfsTer4
NM_001323267.2:c.1846del	NP_001310196.1:p.Arg616GlyfsTer14