Canonical Allele Identifier: CA2610260260

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94270542-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94270545_94270546dup , CM000672.2:g.94270545_94270546dup	GRCh38
NC_000010.10:g.96030302_96030303dup , CM000672.1:g.96030302_96030303dup	GRCh37
NC_000010.9:g.96020292_96020293dup	NCBI36
NG_015799.1:g.281557_281558dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.3525_3526dup	ENSP00000360426.1:p.Ser1176TyrfsTer28
ENST00000685253.1:c.*992_*993dup	ENSP00000509405.1:n.*992_*993dup
ENST00000685889.1:n.1184_1185dup
ENST00000686954.1:c.4449_4450dup	ENSP00000508416.1:p.Ser1484TyrfsTer28
ENST00000688810.1:c.3477_3478dup	ENSP00000509140.1:p.Ser1160TyrfsTer28
ENST00000689233.1:n.4779_4780dup
ENST00000692286.1:c.4449_4450dup	ENSP00000509490.1:p.Ser1484TyrfsTer28
ENST00000692396.1:c.4401_4402dup	ENSP00000508605.1:p.Ser1468TyrfsTer28
ENST00000371380.8:c.4449_4450dup MANE Select	ENSP00000360431.2:p.Ser1484TyrfsTer28
ENST00000371385.8:c.3423_3424dup	ENSP00000360438.4:p.Ser1142TyrfsTer28
ENST00000674738.1:c.2854_2855dup
ENST00000674827.1:c.2526_2527dup	ENSP00000502523.1:p.Ser843TyrfsTer28
ENST00000675218.1:c.3525_3526dup	ENSP00000501910.1:p.Ser1176TyrfsTer28
ENST00000675487.1:c.*382_*383dup	ENSP00000502340.1:n.*382_*383dup
ENST00000675718.1:c.3676_3677dup
ENST00000676102.1:c.3294_3295dup	ENSP00000502811.1:p.Ser1099TyrfsTer28
ENST00000260766.7:c.4449_4450dup	ENSP00000260766.3:p.Ser1484TyrfsTer28
ENST00000371375.1:c.3525_3526dup	ENSP00000360426.1:p.Ser1176TyrfsTer28
ENST00000371380.7:c.4449_4450dup	ENSP00000360431.2:p.Ser1484TyrfsTer28
ENST00000371385.7:c.3525_3526dup	ENSP00000360438.3:p.Ser1176TyrfsTer28
NM_001165979.2:c.3525_3526dup	NP_001159451.1:p.Ser1176TyrfsTer28
NM_001288989.1:c.4401_4402dup	NP_001275918.1:p.Ser1468TyrfsTer28
NM_016341.3:c.4449_4450dup	NP_057425.3:p.Ser1484TyrfsTer28
XM_006717885.2:c.4449_4450dup	XP_006717948.1:p.Ser1484TyrfsTer28
XM_006717886.2:c.4449_4450dup	XP_006717949.1:p.Ser1484TyrfsTer28
XM_006717888.2:c.4449_4450dup	XP_006717951.1:p.Ser1484TyrfsTer28
XM_006717889.2:c.4401_4402dup	XP_006717952.1:p.Ser1468TyrfsTer28
XM_006717890.1:c.3525_3526dup	XP_006717953.1:p.Ser1176TyrfsTer28
XM_011539849.1:c.4449_4450dup	XP_011538151.1:p.Ser1484TyrfsTer28
XM_011539850.1:c.3294_3295dup	XP_011538152.1:p.Ser1099TyrfsTer28
XM_011539851.1:c.4449_4450dup	XP_011538153.1:p.Ser1484TyrfsTer28
XM_011539852.1:c.4449_4450dup	XP_011538154.1:p.Ser1484TyrfsTer28
XM_006717885.4:c.4449_4450dup	XP_006717948.1:p.Ser1484TyrfsTer28
XM_006717888.4:c.4449_4450dup	XP_006717951.1:p.Ser1484TyrfsTer28
XM_006717889.4:c.4401_4402dup	XP_006717952.1:p.Ser1468TyrfsTer28
XM_006717890.3:c.3525_3526dup	XP_006717953.1:p.Ser1176TyrfsTer28
XM_011539849.3:c.4449_4450dup	XP_011538151.1:p.Ser1484TyrfsTer28
XM_011539850.3:c.3294_3295dup	XP_011538152.1:p.Ser1099TyrfsTer28
XM_011539851.3:c.4449_4450dup	XP_011538153.1:p.Ser1484TyrfsTer28
XM_011539852.3:c.4449_4450dup	XP_011538154.1:p.Ser1484TyrfsTer28
XM_017016310.2:c.4449_4450dup	XP_016871799.1:p.Ser1484TyrfsTer28
XM_017016311.2:c.4449_4450dup	XP_016871800.1:p.Ser1484TyrfsTer28
XM_017016312.2:c.3477_3478dup	XP_016871801.1:p.Ser1160TyrfsTer28
NM_001288989.2:c.4401_4402dup	NP_001275918.1:p.Ser1468TyrfsTer28
NM_016341.4:c.4449_4450dup MANE Select	NP_057425.3:p.Ser1484TyrfsTer28