Canonical Allele Identifier: CA2610239641

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298501-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298502_94298503dup , CM000672.2:g.94298502_94298503dup	GRCh38
NC_000010.10:g.96058259_96058260dup , CM000672.1:g.96058259_96058260dup	GRCh37
NC_000010.9:g.96048249_96048250dup	NCBI36
NG_015799.1:g.309514_309515dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4367_4368dup	ENSP00000360426.1:p.Ala1457ProfsTer13
ENST00000685253.1:c.*1834_*1835dup	ENSP00000509405.1:n.*1834_*1835dup
ENST00000685889.1:n.2026_2027dup
ENST00000686807.1:n.710_711dup
ENST00000686954.1:c.*575_*576dup	ENSP00000508416.1:n.*575_*576dup
ENST00000688810.1:c.4319_4320dup	ENSP00000509140.1:p.Ala1441ProfsTer13
ENST00000689233.1:n.9499_9500dup
ENST00000690340.1:n.2964_2965dup
ENST00000692286.1:c.5159_5160dup	ENSP00000509490.1:p.Ala1721ProfsTer13
ENST00000692396.1:c.5243_5244dup	ENSP00000508605.1:p.Ala1749ProfsTer13
ENST00000371380.8:c.5291_5292dup MANE Select	ENSP00000360431.2:p.Ala1765ProfsTer13
ENST00000371385.8:c.4265_4266dup	ENSP00000360438.4:p.Ala1423ProfsTer13
ENST00000674738.1:c.3846_3847dup
ENST00000674827.1:c.3407_3408dup	ENSP00000502523.1:p.Ala1137ProfsTer13
ENST00000675218.1:c.4367_4368dup	ENSP00000501910.1:p.Ala1457ProfsTer13
ENST00000675487.1:c.*1224_*1225dup	ENSP00000502340.1:n.*1224_*1225dup
ENST00000675718.1:c.4560_4561dup
ENST00000260766.7:c.5291_5292dup	ENSP00000260766.3:p.Ala1765ProfsTer13
ENST00000371375.1:c.4367_4368dup	ENSP00000360426.1:p.Ala1457ProfsTer13
ENST00000371380.7:c.5291_5292dup	ENSP00000360431.2:p.Ala1765ProfsTer13
ENST00000371385.7:c.4367_4368dup	ENSP00000360438.3:p.Ala1457ProfsTer13
NM_001165979.2:c.4367_4368dup	NP_001159451.1:p.Ala1457ProfsTer13
NM_001288989.1:c.5243_5244dup	NP_001275918.1:p.Ala1749ProfsTer13
NM_016341.3:c.5291_5292dup	NP_057425.3:p.Ala1765ProfsTer13
XM_006717885.2:c.5333_5334dup	XP_006717948.1:p.Ala1779ProfsTer13
XM_006717886.2:c.5333_5334dup	XP_006717949.1:p.Ala1779ProfsTer13
XM_006717888.2:c.5330_5331dup	XP_006717951.1:p.Ala1778ProfsTer13
XM_006717889.2:c.5285_5286dup	XP_006717952.1:p.Ala1763ProfsTer13
XM_006717890.1:c.4409_4410dup	XP_006717953.1:p.Ala1471ProfsTer13
XM_011539849.1:c.5333_5334dup	XP_011538151.1:p.Ala1779ProfsTer13
XM_011539850.1:c.4178_4179dup	XP_011538152.1:p.Ala1394ProfsTer13
XM_006717885.4:c.5333_5334dup	XP_006717948.1:p.Ala1779ProfsTer13
XM_006717888.4:c.5330_5331dup	XP_006717951.1:p.Ala1778ProfsTer13
XM_006717889.4:c.5285_5286dup	XP_006717952.1:p.Ala1763ProfsTer13
XM_006717890.3:c.4409_4410dup	XP_006717953.1:p.Ala1471ProfsTer13
XM_011539849.3:c.5333_5334dup	XP_011538151.1:p.Ala1779ProfsTer13
XM_011539850.3:c.4178_4179dup	XP_011538152.1:p.Ala1394ProfsTer13
XM_017016310.2:c.5333_5334dup	XP_016871799.1:p.Ala1779ProfsTer13
XM_017016311.2:c.5333_5334dup	XP_016871800.1:p.Ala1779ProfsTer13
XM_017016312.2:c.4319_4320dup	XP_016871801.1:p.Ala1441ProfsTer13
NM_001288989.2:c.5243_5244dup	NP_001275918.1:p.Ala1749ProfsTer13
NM_016341.4:c.5291_5292dup MANE Select	NP_057425.3:p.Ala1765ProfsTer13