Canonical Allele Identifier: CA2789048720

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298542_94298543del , CM000672.2:g.94298542_94298543del	GRCh38
NC_000010.10:g.96058299_96058300del , CM000672.1:g.96058299_96058300del	GRCh37
NC_000010.9:g.96048289_96048290del	NCBI36
NG_015799.1:g.309554_309555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4407_4408del	ENSP00000360426.1:p.Gln1470AlafsTer?
ENST00000685253.1:c.*1874_*1875del	ENSP00000509405.1:n.*1874_*1875del
ENST00000685889.1:n.2066_2067del
ENST00000686807.1:n.750_751del
ENST00000686954.1:c.*615_*616del	ENSP00000508416.1:n.*615_*616del
ENST00000688810.1:c.4359_4360del	ENSP00000509140.1:p.Gln1454AlafsTer?
ENST00000689233.1:n.9539_9540del
ENST00000690340.1:n.3004_3005del
ENST00000692286.1:c.5199_5200del	ENSP00000509490.1:p.Gln1734AlafsTer?
ENST00000692396.1:c.5283_5284del	ENSP00000508605.1:p.Gln1762AlafsTer?
ENST00000371380.8:c.5331_5332del MANE Select	ENSP00000360431.2:p.Gln1778AlafsTer?
ENST00000371385.8:c.4305_4306del	ENSP00000360438.4:p.Gln1436AlafsTer?
ENST00000674738.1:c.3886_3887del
ENST00000674827.1:c.3447_3448del	ENSP00000502523.1:p.Gln1150AlafsTer?
ENST00000675218.1:c.4407_4408del	ENSP00000501910.1:p.Gln1470AlafsTer?
ENST00000675487.1:c.*1264_*1265del	ENSP00000502340.1:n.*1264_*1265del
ENST00000675718.1:c.4600_4601del
ENST00000260766.7:c.5331_5332del	ENSP00000260766.3:p.Gln1778AlafsTer?
ENST00000371375.1:c.4407_4408del	ENSP00000360426.1:p.Gln1470AlafsTer?
ENST00000371380.7:c.5331_5332del	ENSP00000360431.2:p.Gln1778AlafsTer?
ENST00000371385.7:c.4407_4408del	ENSP00000360438.3:p.Gln1470AlafsTer?
NM_001165979.2:c.4407_4408del	NP_001159451.1:p.Gln1470AlafsTer?
NM_001288989.1:c.5283_5284del	NP_001275918.1:p.Gln1762AlafsTer?
NM_016341.3:c.5331_5332del	NP_057425.3:p.Gln1778AlafsTer?
XM_006717885.2:c.5373_5374del	XP_006717948.1:p.Gln1792AlafsTer?
XM_006717886.2:c.5373_5374del	XP_006717949.1:p.Gln1792AlafsTer?
XM_006717888.2:c.5370_5371del	XP_006717951.1:p.Gln1791AlafsTer?
XM_006717889.2:c.5325_5326del	XP_006717952.1:p.Gln1776AlafsTer?
XM_006717890.1:c.4449_4450del	XP_006717953.1:p.Gln1484AlafsTer?
XM_011539849.1:c.5373_5374del	XP_011538151.1:p.Gln1792AlafsTer?
XM_011539850.1:c.4218_4219del	XP_011538152.1:p.Gln1407AlafsTer?
XM_006717885.4:c.5373_5374del	XP_006717948.1:p.Gln1792AlafsTer?
XM_006717888.4:c.5370_5371del	XP_006717951.1:p.Gln1791AlafsTer?
XM_006717889.4:c.5325_5326del	XP_006717952.1:p.Gln1776AlafsTer?
XM_006717890.3:c.4449_4450del	XP_006717953.1:p.Gln1484AlafsTer?
XM_011539849.3:c.5373_5374del	XP_011538151.1:p.Gln1792AlafsTer?
XM_011539850.3:c.4218_4219del	XP_011538152.1:p.Gln1407AlafsTer?
XM_017016310.2:c.5373_5374del	XP_016871799.1:p.Gln1792AlafsTer?
XM_017016311.2:c.5373_5374del	XP_016871800.1:p.Gln1792AlafsTer?
XM_017016312.2:c.4359_4360del	XP_016871801.1:p.Gln1454AlafsTer?
NM_001288989.2:c.5283_5284del	NP_001275918.1:p.Gln1762AlafsTer?
NM_016341.4:c.5331_5332del MANE Select	NP_057425.3:p.Gln1778AlafsTer?