Canonical Allele Identifier: CA2610239651

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298635-G-GATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298637_94298640dup , CM000672.2:g.94298637_94298640dup	GRCh38
NC_000010.10:g.96058394_96058397dup , CM000672.1:g.96058394_96058397dup	GRCh37
NC_000010.9:g.96048384_96048387dup	NCBI36
NG_015799.1:g.309649_309652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4502_4505dup	ENSP00000360426.1:p.Gln1502HisfsTer11
ENST00000685253.1:c.*1969_*1972dup	ENSP00000509405.1:n.*1969_*1972dup
ENST00000685889.1:n.2161_2164dup
ENST00000686807.1:n.845_848dup
ENST00000686954.1:c.*710_*713dup	ENSP00000508416.1:n.*710_*713dup
ENST00000688810.1:c.4454_4457dup	ENSP00000509140.1:p.Gln1486HisfsTer11
ENST00000689233.1:n.9634_9637dup
ENST00000690340.1:n.3099_3102dup
ENST00000692286.1:c.5294_5297dup	ENSP00000509490.1:p.Gln1766HisfsTer11
ENST00000692396.1:c.5378_5381dup	ENSP00000508605.1:p.Gln1794HisfsTer11
ENST00000371380.8:c.5426_5429dup MANE Select	ENSP00000360431.2:p.Gln1810HisfsTer11
ENST00000371385.8:c.4400_4403dup	ENSP00000360438.4:p.Gln1468HisfsTer11
ENST00000674738.1:c.3981_3984dup
ENST00000674827.1:c.3542_3545dup	ENSP00000502523.1:p.Gln1182HisfsTer11
ENST00000675218.1:c.4502_4505dup	ENSP00000501910.1:p.Gln1502HisfsTer11
ENST00000675487.1:c.*1359_*1362dup	ENSP00000502340.1:n.*1359_*1362dup
ENST00000675718.1:c.4695_4698dup
ENST00000260766.7:c.5426_5429dup	ENSP00000260766.3:p.Gln1810HisfsTer11
ENST00000371375.1:c.4502_4505dup	ENSP00000360426.1:p.Gln1502HisfsTer11
ENST00000371380.7:c.5426_5429dup	ENSP00000360431.2:p.Gln1810HisfsTer11
ENST00000371385.7:c.4502_4505dup	ENSP00000360438.3:p.Gln1502HisfsTer11
NM_001165979.2:c.4502_4505dup	NP_001159451.1:p.Gln1502HisfsTer11
NM_001288989.1:c.5378_5381dup	NP_001275918.1:p.Gln1794HisfsTer11
NM_016341.3:c.5426_5429dup	NP_057425.3:p.Gln1810HisfsTer11
XM_006717885.2:c.5468_5471dup	XP_006717948.1:p.Gln1824HisfsTer11
XM_006717886.2:c.5468_5471dup	XP_006717949.1:p.Gln1824HisfsTer11
XM_006717888.2:c.5465_5468dup	XP_006717951.1:p.Gln1823HisfsTer11
XM_006717889.2:c.5420_5423dup	XP_006717952.1:p.Gln1808HisfsTer11
XM_006717890.1:c.4544_4547dup	XP_006717953.1:p.Gln1516HisfsTer11
XM_011539849.1:c.5468_5471dup	XP_011538151.1:p.Gln1824HisfsTer11
XM_011539850.1:c.4313_4316dup	XP_011538152.1:p.Gln1439HisfsTer11
XM_006717885.4:c.5468_5471dup	XP_006717948.1:p.Gln1824HisfsTer11
XM_006717888.4:c.5465_5468dup	XP_006717951.1:p.Gln1823HisfsTer11
XM_006717889.4:c.5420_5423dup	XP_006717952.1:p.Gln1808HisfsTer11
XM_006717890.3:c.4544_4547dup	XP_006717953.1:p.Gln1516HisfsTer11
XM_011539849.3:c.5468_5471dup	XP_011538151.1:p.Gln1824HisfsTer11
XM_011539850.3:c.4313_4316dup	XP_011538152.1:p.Gln1439HisfsTer11
XM_017016310.2:c.5468_5471dup	XP_016871799.1:p.Gln1824HisfsTer11
XM_017016311.2:c.5468_5471dup	XP_016871800.1:p.Gln1824HisfsTer11
XM_017016312.2:c.4454_4457dup	XP_016871801.1:p.Gln1486HisfsTer11
NM_001288989.2:c.5378_5381dup	NP_001275918.1:p.Gln1794HisfsTer11
NM_016341.4:c.5426_5429dup MANE Select	NP_057425.3:p.Gln1810HisfsTer11