Canonical Allele Identifier: CA3002189313

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298573dup , CM000672.2:g.94298573dup	GRCh38
NC_000010.10:g.96058330dup , CM000672.1:g.96058330dup	GRCh37
NC_000010.9:g.96048320dup	NCBI36
NG_015799.1:g.309585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4438dup	ENSP00000360426.1:p.Tyr1480LeufsTer?
ENST00000685253.1:c.*1905dup	ENSP00000509405.1:n.*1905dup
ENST00000685889.1:n.2097dup
ENST00000686807.1:n.781dup
ENST00000686954.1:c.*646dup	ENSP00000508416.1:n.*646dup
ENST00000688810.1:c.4390dup	ENSP00000509140.1:p.Tyr1464LeufsTer?
ENST00000689233.1:n.9570dup
ENST00000690340.1:n.3035dup
ENST00000692286.1:c.5230dup	ENSP00000509490.1:p.Tyr1744LeufsTer?
ENST00000692396.1:c.5314dup	ENSP00000508605.1:p.Tyr1772LeufsTer?
ENST00000371380.8:c.5362dup MANE Select	ENSP00000360431.2:p.Tyr1788LeufsTer?
ENST00000371385.8:c.4336dup	ENSP00000360438.4:p.Tyr1446LeufsTer?
ENST00000674738.1:c.3917dup
ENST00000674827.1:c.3478dup	ENSP00000502523.1:p.Tyr1160LeufsTer?
ENST00000675218.1:c.4438dup	ENSP00000501910.1:p.Tyr1480LeufsTer?
ENST00000675487.1:c.*1295dup	ENSP00000502340.1:n.*1295dup
ENST00000675718.1:c.4631dup
ENST00000260766.7:c.5362dup	ENSP00000260766.3:p.Tyr1788LeufsTer?
ENST00000371375.1:c.4438dup	ENSP00000360426.1:p.Tyr1480LeufsTer?
ENST00000371380.7:c.5362dup	ENSP00000360431.2:p.Tyr1788LeufsTer?
ENST00000371385.7:c.4438dup	ENSP00000360438.3:p.Tyr1480LeufsTer?
NM_001165979.2:c.4438dup	NP_001159451.1:p.Tyr1480LeufsTer?
NM_001288989.1:c.5314dup	NP_001275918.1:p.Tyr1772LeufsTer?
NM_016341.3:c.5362dup	NP_057425.3:p.Tyr1788LeufsTer?
XM_006717885.2:c.5404dup	XP_006717948.1:p.Tyr1802LeufsTer?
XM_006717886.2:c.5404dup	XP_006717949.1:p.Tyr1802LeufsTer?
XM_006717888.2:c.5401dup	XP_006717951.1:p.Tyr1801LeufsTer?
XM_006717889.2:c.5356dup	XP_006717952.1:p.Tyr1786LeufsTer?
XM_006717890.1:c.4480dup	XP_006717953.1:p.Tyr1494LeufsTer?
XM_011539849.1:c.5404dup	XP_011538151.1:p.Tyr1802LeufsTer?
XM_011539850.1:c.4249dup	XP_011538152.1:p.Tyr1417LeufsTer?
XM_006717885.4:c.5404dup	XP_006717948.1:p.Tyr1802LeufsTer?
XM_006717888.4:c.5401dup	XP_006717951.1:p.Tyr1801LeufsTer?
XM_006717889.4:c.5356dup	XP_006717952.1:p.Tyr1786LeufsTer?
XM_006717890.3:c.4480dup	XP_006717953.1:p.Tyr1494LeufsTer?
XM_011539849.3:c.5404dup	XP_011538151.1:p.Tyr1802LeufsTer?
XM_011539850.3:c.4249dup	XP_011538152.1:p.Tyr1417LeufsTer?
XM_017016310.2:c.5404dup	XP_016871799.1:p.Tyr1802LeufsTer?
XM_017016311.2:c.5404dup	XP_016871800.1:p.Tyr1802LeufsTer?
XM_017016312.2:c.4390dup	XP_016871801.1:p.Tyr1464LeufsTer?
NM_001288989.2:c.5314dup	NP_001275918.1:p.Tyr1772LeufsTer?
NM_016341.4:c.5362dup MANE Select	NP_057425.3:p.Tyr1788LeufsTer?