Canonical Allele Identifier: CA2610239639

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298478-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298479dup , CM000672.2:g.94298479dup	GRCh38
NC_000010.10:g.96058236dup , CM000672.1:g.96058236dup	GRCh37
NC_000010.9:g.96048226dup	NCBI36
NG_015799.1:g.309491dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4344dup	ENSP00000360426.1:p.Ile1449TyrfsTer6
ENST00000685253.1:c.*1811dup	ENSP00000509405.1:n.*1811dup
ENST00000685889.1:n.2003dup
ENST00000686807.1:n.687dup
ENST00000686954.1:c.*552dup	ENSP00000508416.1:n.*552dup
ENST00000688810.1:c.4296dup	ENSP00000509140.1:p.Ile1433TyrfsTer6
ENST00000689233.1:n.9476dup
ENST00000690340.1:n.2941dup
ENST00000692286.1:c.5136dup	ENSP00000509490.1:p.Ile1713TyrfsTer6
ENST00000692396.1:c.5220dup	ENSP00000508605.1:p.Ile1741TyrfsTer6
ENST00000371380.8:c.5268dup MANE Select	ENSP00000360431.2:p.Ile1757TyrfsTer6
ENST00000371385.8:c.4242dup	ENSP00000360438.4:p.Ile1415TyrfsTer6
ENST00000674738.1:c.3823dup
ENST00000674827.1:c.3384dup	ENSP00000502523.1:p.Ile1129TyrfsTer6
ENST00000675218.1:c.4344dup	ENSP00000501910.1:p.Ile1449TyrfsTer6
ENST00000675487.1:c.*1201dup	ENSP00000502340.1:n.*1201dup
ENST00000675718.1:c.4537dup
ENST00000260766.7:c.5268dup	ENSP00000260766.3:p.Ile1757TyrfsTer6
ENST00000371375.1:c.4344dup	ENSP00000360426.1:p.Ile1449TyrfsTer6
ENST00000371380.7:c.5268dup	ENSP00000360431.2:p.Ile1757TyrfsTer6
ENST00000371385.7:c.4344dup	ENSP00000360438.3:p.Ile1449TyrfsTer6
NM_001165979.2:c.4344dup	NP_001159451.1:p.Ile1449TyrfsTer6
NM_001288989.1:c.5220dup	NP_001275918.1:p.Ile1741TyrfsTer6
NM_016341.3:c.5268dup	NP_057425.3:p.Ile1757TyrfsTer6
XM_006717885.2:c.5310dup	XP_006717948.1:p.Ile1771TyrfsTer6
XM_006717886.2:c.5310dup	XP_006717949.1:p.Ile1771TyrfsTer6
XM_006717888.2:c.5307dup	XP_006717951.1:p.Ile1770TyrfsTer6
XM_006717889.2:c.5262dup	XP_006717952.1:p.Ile1755TyrfsTer6
XM_006717890.1:c.4386dup	XP_006717953.1:p.Ile1463TyrfsTer6
XM_011539849.1:c.5310dup	XP_011538151.1:p.Ile1771TyrfsTer6
XM_011539850.1:c.4155dup	XP_011538152.1:p.Ile1386TyrfsTer6
XM_006717885.4:c.5310dup	XP_006717948.1:p.Ile1771TyrfsTer6
XM_006717888.4:c.5307dup	XP_006717951.1:p.Ile1770TyrfsTer6
XM_006717889.4:c.5262dup	XP_006717952.1:p.Ile1755TyrfsTer6
XM_006717890.3:c.4386dup	XP_006717953.1:p.Ile1463TyrfsTer6
XM_011539849.3:c.5310dup	XP_011538151.1:p.Ile1771TyrfsTer6
XM_011539850.3:c.4155dup	XP_011538152.1:p.Ile1386TyrfsTer6
XM_017016310.2:c.5310dup	XP_016871799.1:p.Ile1771TyrfsTer6
XM_017016311.2:c.5310dup	XP_016871800.1:p.Ile1771TyrfsTer6
XM_017016312.2:c.4296dup	XP_016871801.1:p.Ile1433TyrfsTer6
NM_001288989.2:c.5220dup	NP_001275918.1:p.Ile1741TyrfsTer6
NM_016341.4:c.5268dup MANE Select	NP_057425.3:p.Ile1757TyrfsTer6