Canonical Allele Identifier: CA2576874192

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212618-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212621_52212622del , CM000681.2:g.52212621_52212622del	GRCh38
NC_000019.9:g.52715874_52715875del , CM000681.1:g.52715874_52715875del	GRCh37
NC_000019.8:g.57407686_57407687del	NCBI36
NG_047068.1:g.27820_27821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.624-65_624-64del	ENSP00000391905.3:n.624-65_624-64del
ENST00000703395.1:c.-34-65_-34-64del	ENSP00000515286.1:n.-34-65_-34-64del
ENST00000703396.1:n.448-65_448-64del
ENST00000703397.1:c.-34-65_-34-64del	ENSP00000515287.1:n.-34-65_-34-64del
ENST00000703398.1:c.546-65_546-64del	ENSP00000515288.1:n.546-65_546-64del
ENST00000703421.1:n.657-65_657-64del
ENST00000703422.1:c.480-65_480-64del	ENSP00000515292.1:n.480-65_480-64del
ENST00000703423.1:c.-34-65_-34-64del	ENSP00000515293.1:n.-34-65_-34-64del
ENST00000322088.11:c.504-65_504-64del MANE Select	ENSP00000324804.6:n.504-65_504-64del
ENST00000322088.10:c.504-65_504-64del	ENSP00000324804.6:n.504-65_504-64del
ENST00000454220.6:c.624-65_624-64del	ENSP00000391905.2:n.624-65_624-64del
ENST00000462047.1:n.130_131del
ENST00000462990.5:c.-34-65_-34-64del	ENSP00000470504.1:n.-34-65_-34-64del
ENST00000473455.2:n.603-65_603-64del
NM_014225.5:c.504-65_504-64del	NP_055040.2:n.504-65_504-64del
NR_033500.1:n.698-65_698-64del
NM_001363656.1:c.-34-65_-34-64del	NP_001350585.1:n.-34-65_-34-64del
NM_014225.6:c.504-65_504-64del MANE Select	NP_055040.2:n.504-65_504-64del
NM_001363656.2:c.-34-65_-34-64del	NP_001350585.1:n.-34-65_-34-64del
NR_033500.2:n.448-65_448-64del