Canonical Allele Identifier: CA2608155909

Gene: PRKCQ

Linked Data

• gnomAD v4: 10-6430755-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6430758del , CM000672.2:g.6430758del	GRCh38
NC_000010.10:g.6472720del , CM000672.1:g.6472720del	GRCh37
NC_000010.9:g.6512726del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263125.10:c.1965+54del MANE Select	ENSP00000263125.5:n.1965+54del
ENST00000263125.9:c.1965+54del	ENSP00000263125.5:n.1965+54del
ENST00000397176.6:c.1776+54del	ENSP00000380361.2:n.1776+54del
ENST00000539722.5:c.1590+54del	ENSP00000441752.1:n.1590+54del
ENST00000610727.1:c.1857+54del	ENSP00000483428.1:n.1857+54del
NM_001242413.2:c.1776+54del	NP_001229342.1:n.1776+54del
NM_001282644.1:c.1857+54del	NP_001269573.1:n.1857+54del
NM_001282645.1:c.1590+54del	NP_001269574.1:n.1590+54del
NM_006257.4:c.1965+54del	NP_006248.1:n.1965+54del
XM_005252496.3:c.2067+54del	XP_005252553.1:n.2067+54del
XM_005252497.3:c.2067+54del	XP_005252554.1:n.2067+54del
XM_006717465.2:c.1965+54del	XP_006717528.1:n.1965+54del
XM_011519547.1:c.1965+54del	XP_011517849.1:n.1965+54del
XM_011519548.1:c.1939-2394del	XP_011517850.1:n.1939-2394del
NM_001323265.1:c.1965+54del	NP_001310194.1:n.1965+54del
NM_001323266.1:c.1590+54del	NP_001310195.1:n.1590+54del
NM_001323267.1:c.1857+54del	NP_001310196.1:n.1857+54del
XM_005252496.4:c.2067+54del	XP_005252553.1:n.2067+54del
XM_005252497.4:c.2067+54del	XP_005252554.1:n.2067+54del
XM_024448076.1:c.1965+54del	XP_024303844.1:n.1965+54del
XM_024448077.1:c.1590+54del	XP_024303845.1:n.1590+54del
NM_001282644.2:c.1857+54del	NP_001269573.1:n.1857+54del
NM_001323266.2:c.1590+54del	NP_001310195.1:n.1590+54del
NM_006257.5:c.1965+54del MANE Select	NP_006248.1:n.1965+54del
NM_001323267.2:c.1857+54del	NP_001310196.1:n.1857+54del