Canonical Allele Identifier: CA2580071250

Gene: PPP3CA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101032355_101032356del , CM000666.2:g.101032355_101032356del	GRCh38
NC_000004.11:g.101953512_101953513del , CM000666.1:g.101953512_101953513del	GRCh37
NC_000004.10:g.102172535_102172536del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000944.5:c.1251_1252del MANE Select	NP_000935.1:p.Ser417ArgfsTer?
ENST00000394854.8:c.1251_1252del MANE Select	ENSP00000378323.3:p.Ser417ArgfsTer?
NM_000944.4:c.1251_1252del	NP_000935.1:p.Ser417ArgfsTer?
NM_001130691.1:c.1251_1252del	NP_001124163.1:p.Ser417ArgfsTer?
NM_001130691.2:c.1251_1252del	NP_001124163.1:p.Ser417ArgfsTer?
NM_001130692.1:c.1125_1126del	NP_001124164.1:p.Ser375ArgfsTer?
NM_001130692.2:c.1125_1126del	NP_001124164.1:p.Ser375ArgfsTer?
ENST00000323055.10:c.1125_1126del	ENSP00000320580.6:p.Ser375ArgfsTer?
ENST00000394853.8:c.1251_1252del	ENSP00000378322.4:p.Ser417ArgfsTer?
ENST00000394854.7:c.1251_1252del	ENSP00000378323.3:p.Ser417ArgfsTer?
ENST00000507176.5:c.957_958del	ENSP00000422990.1:p.Ser319ArgfsTer?
ENST00000512215.5:c.555_556del	ENSP00000422781.1:p.Ser185ArgfsTer?
XM_017008365.1:c.1215_1216del	XP_016863854.1:p.Ser405ArgfsTer?
XM_024454127.1:c.1101_1102del	XP_024309895.1:p.Ser367ArgfsTer?