Canonical Allele Identifier: CA2580097734

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52221094del , CM000681.2:g.52221094del	GRCh38
NC_000019.9:g.52724347del , CM000681.1:g.52724347del	GRCh37
NC_000019.8:g.57416159del	NCBI36
NG_047068.1:g.36293del

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.1479del MANE Select	NP_055040.2:p.Asn494ThrfsTer6
ENST00000322088.11:c.1479del MANE Select	ENSP00000324804.6:p.Asn494ThrfsTer6
NM_001363656.1:c.942del	NP_001350585.1:p.Asn315ThrfsTer6
NM_001363656.2:c.942del	NP_001350585.1:p.Asn315ThrfsTer6
NM_014225.5:c.1479del	NP_055040.2:p.Asn494ThrfsTer6
NR_033500.1:n.1673del
NR_033500.2:n.1423del
ENST00000322088.10:c.1479del	ENSP00000324804.6:p.Asn494ThrfsTer6
ENST00000391791.4:c.112del
ENST00000454220.7:c.1599del	ENSP00000391905.3:p.Asn534ThrfsTer6
ENST00000462990.5:c.942del	ENSP00000470504.1:p.Asn315ThrfsTer6
ENST00000703395.1:c.942del	ENSP00000515286.1:p.Asn315ThrfsTer6
ENST00000703397.1:c.942del	ENSP00000515287.1:p.Asn315ThrfsTer6
ENST00000703398.1:c.1521del	ENSP00000515288.1:p.Asn508ThrfsTer6
ENST00000703401.1:c.312-1017del	ENSP00000515289.1:n.312-1017del
ENST00000703422.1:c.1455del	ENSP00000515292.1:p.Asn486ThrfsTer6
ENST00000703423.1:c.942del	ENSP00000515293.1:p.Asn315ThrfsTer6