Canonical Allele Identifier: CA1111747469

Gene: PPP3CC

Linked Data

• dbSNP Id: rs1837415193
• gnomAD v3: 8-22463205-T-TG
• gnomAD v4: 8-22463205-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22463208dup , CM000670.2:g.22463208dup	GRCh38
NC_000008.10:g.22320721dup , CM000670.1:g.22320721dup	GRCh37
NC_000008.9:g.22376666dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000240139.10:c.50-11746dup MANE Select	ENSP00000240139.5:n.50-11746dup
ENST00000240139.9:c.50-11746dup	ENSP00000240139.5:n.50-11746dup
ENST00000289963.12:c.50-11746dup	ENSP00000289963.8:n.50-11746dup
ENST00000397775.7:c.50-11746dup	ENSP00000380878.3:n.50-11746dup
ENST00000518852.5:c.50-11746dup	ENSP00000429379.1:n.50-11746dup
ENST00000522000.1:c.95-11746dup	ENSP00000428358.1:n.95-11746dup
NM_001243974.1:c.50-11746dup	NP_001230903.1:n.50-11746dup
NM_001243975.1:c.50-11746dup	NP_001230904.1:n.50-11746dup
NM_005605.4:c.50-11746dup	NP_005596.2:n.50-11746dup
XM_005273564.1:c.50-11746dup	XP_005273621.1:n.50-11746dup
XR_949434.1:n.490-11746dup
XR_949436.1:n.490-11746dup
XM_017013611.2:c.50-11746dup	XP_016869100.1:n.50-11746dup
XR_001745553.2:n.407-11746dup
XR_001745554.2:n.407-11746dup
XR_001745555.2:n.407-11746dup
XR_001745556.2:n.407-11746dup
XR_001745557.2:n.407-11746dup
XR_001745558.2:n.407-11746dup
XR_001745559.2:n.407-11746dup
NM_001243974.2:c.50-11746dup	NP_001230903.1:n.50-11746dup
NM_001243975.2:c.50-11746dup	NP_001230904.1:n.50-11746dup
NM_005605.5:c.50-11746dup MANE Select	NP_005596.2:n.50-11746dup