Canonical Allele Identifier: CA2576874198

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212735_52212736del , CM000681.2:g.52212735_52212736del	GRCh38
NC_000019.9:g.52715988_52715989del , CM000681.1:g.52715988_52715989del	GRCh37
NC_000019.8:g.57407800_57407801del	NCBI36
NG_047068.1:g.27934_27935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454220.7:c.673_674del	ENSP00000391905.3:p.Ala225SerfsTer19
ENST00000703395.1:c.16_17del	ENSP00000515286.1:p.Ala6SerfsTer19
ENST00000703396.1:n.497_498del
ENST00000703397.1:c.16_17del	ENSP00000515287.1:p.Ala6SerfsTer19
ENST00000703398.1:c.595_596del	ENSP00000515288.1:p.Ala199SerfsTer19
ENST00000703421.1:n.706_707del
ENST00000703422.1:c.529_530del	ENSP00000515292.1:p.Ala177SerfsTer19
ENST00000703423.1:c.16_17del	ENSP00000515293.1:p.Ala6SerfsTer19
ENST00000322088.11:c.553_554del MANE Select	ENSP00000324804.6:p.Ala185SerfsTer19
ENST00000322088.10:c.553_554del	ENSP00000324804.6:p.Ala185SerfsTer19
ENST00000454220.6:c.673_674del	ENSP00000391905.2:p.Ala225SerfsTer19
ENST00000462047.1:n.244_245del
ENST00000462990.5:c.16_17del	ENSP00000470504.1:p.Ala6SerfsTer19
NM_014225.5:c.553_554del	NP_055040.2:p.Ala185SerfsTer19
NR_033500.1:n.747_748del
NM_001363656.1:c.16_17del	NP_001350585.1:p.Ala6SerfsTer19
NM_014225.6:c.553_554del MANE Select	NP_055040.2:p.Ala185SerfsTer19
NM_001363656.2:c.16_17del	NP_001350585.1:p.Ala6SerfsTer19
NR_033500.2:n.497_498del