Canonical Allele Identifier: CA2576874195

Gene: PPP2R1A

Linked Data

• gnomAD v4: 19-52212635-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52212640_52212641del , CM000681.2:g.52212640_52212641del	GRCh38
NC_000019.9:g.52715893_52715894del , CM000681.1:g.52715893_52715894del	GRCh37
NC_000019.8:g.57407705_57407706del	NCBI36
NG_047068.1:g.27839_27840del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454220.7:c.624-46_624-45del	ENSP00000391905.3:n.624-46_624-45del
ENST00000703395.1:c.-34-46_-34-45del	ENSP00000515286.1:n.-34-46_-34-45del
ENST00000703396.1:n.448-46_448-45del
ENST00000703397.1:c.-34-46_-34-45del	ENSP00000515287.1:n.-34-46_-34-45del
ENST00000703398.1:c.546-46_546-45del	ENSP00000515288.1:n.546-46_546-45del
ENST00000703421.1:n.657-46_657-45del
ENST00000703422.1:c.480-46_480-45del	ENSP00000515292.1:n.480-46_480-45del
ENST00000703423.1:c.-34-46_-34-45del	ENSP00000515293.1:n.-34-46_-34-45del
ENST00000322088.11:c.504-46_504-45del MANE Select	ENSP00000324804.6:n.504-46_504-45del
ENST00000322088.10:c.504-46_504-45del	ENSP00000324804.6:n.504-46_504-45del
ENST00000454220.6:c.624-46_624-45del	ENSP00000391905.2:n.624-46_624-45del
ENST00000462047.1:n.149_150del
ENST00000462990.5:c.-34-46_-34-45del	ENSP00000470504.1:n.-34-46_-34-45del
ENST00000473455.2:n.603-46_603-45del
NM_014225.5:c.504-46_504-45del	NP_055040.2:n.504-46_504-45del
NR_033500.1:n.698-46_698-45del
NM_001363656.1:c.-34-46_-34-45del	NP_001350585.1:n.-34-46_-34-45del
NM_014225.6:c.504-46_504-45del MANE Select	NP_055040.2:n.504-46_504-45del
NM_001363656.2:c.-34-46_-34-45del	NP_001350585.1:n.-34-46_-34-45del
NR_033500.2:n.448-46_448-45del