Canonical Allele Identifier: CA931345389

Gene: PLCE1 NOC3L

Linked Data

• ClinVar Variation Id: 3004254
• ClinVar RCV Id: RCV003865893
• dbSNP Id: rs2053825782
• gnomAD v3: 10-94322006-CG-C
• gnomAD v4: 10-94322006-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94322007del , CM000672.2:g.94322007del	GRCh38
NC_000010.10:g.96081764del , CM000672.1:g.96081764del	GRCh37
NC_000010.9:g.96071754del	NCBI36
NG_015799.1:g.333019del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5525del (PLCE1)	ENSP00000360426.1:p.Arg1842GlnfsTer30
ENST00000685132.1:n.3848del (PLCE1)
ENST00000685253.1:c.*2992del (PLCE1)	ENSP00000509405.1:n.*2992del
ENST00000685889.1:n.3184del (PLCE1)
ENST00000686807.1:n.1868del (PLCE1)
ENST00000686954.1:c.*1733del (PLCE1)	ENSP00000508416.1:n.*1733del
ENST00000688810.1:c.5477del (PLCE1)	ENSP00000509140.1:p.Arg1826GlnfsTer30
ENST00000689233.1:n.10657del (PLCE1)
ENST00000690340.1:n.4122del (PLCE1)
ENST00000692286.1:c.6317del (PLCE1)	ENSP00000509490.1:p.Arg2106GlnfsTer30
ENST00000692396.1:c.6401del (PLCE1)	ENSP00000508605.1:p.Arg2134GlnfsTer30
ENST00000371380.8:c.6449del (PLCE1) MANE Select	ENSP00000360431.2:p.Arg2150GlnfsTer30
ENST00000371385.8:c.5423del (PLCE1)	ENSP00000360438.4:p.Arg1808GlnfsTer30
ENST00000674738.1:c.5004del (PLCE1)
ENST00000674827.1:c.4565del (PLCE1)	ENSP00000502523.1:p.Arg1522GlnfsTer?
ENST00000675218.1:c.5525del (PLCE1)	ENSP00000501910.1:p.Arg1842GlnfsTer30
ENST00000675487.1:c.*2382del (PLCE1)	ENSP00000502340.1:n.*2382del
ENST00000675718.1:c.5718del (PLCE1)
ENST00000260766.7:c.6449del (PLCE1)	ENSP00000260766.3:p.Arg2150GlnfsTer30
ENST00000371375.1:c.5525del (PLCE1)	ENSP00000360426.1:p.Arg1842GlnfsTer30
ENST00000371380.7:c.6449del (PLCE1)	ENSP00000360431.2:p.Arg2150GlnfsTer30
ENST00000371385.7:c.5525del (PLCE1)	ENSP00000360438.3:p.Arg1842GlnfsTer30
NM_001165979.2:c.5525del (PLCE1)	NP_001159451.1:p.Arg1842GlnfsTer30
NM_001288989.1:c.6401del (PLCE1)	NP_001275918.1:p.Arg2134GlnfsTer30
NM_016341.3:c.6449del (PLCE1)	NP_057425.3:p.Arg2150GlnfsTer30
XM_006717885.2:c.6491del (PLCE1)	XP_006717948.1:p.Arg2164GlnfsTer30
XM_006717886.2:c.6491del (PLCE1)	XP_006717949.1:p.Arg2164GlnfsTer30
XM_006717888.2:c.6488del (PLCE1)	XP_006717951.1:p.Arg2163GlnfsTer30
XM_006717889.2:c.6443del (PLCE1)	XP_006717952.1:p.Arg2148GlnfsTer30
XM_006717890.1:c.5567del (PLCE1)	XP_006717953.1:p.Arg1856GlnfsTer30
XM_011539849.1:c.6491del (PLCE1)	XP_011538151.1:p.Arg2164GlnfsTer30
XM_011539850.1:c.5336del (PLCE1)	XP_011538152.1:p.Arg1779GlnfsTer30
XR_945799.1:n.3311-6543del (NOC3L)
XM_006717885.4:c.6491del (PLCE1)	XP_006717948.1:p.Arg2164GlnfsTer30
XM_006717888.4:c.6488del (PLCE1)	XP_006717951.1:p.Arg2163GlnfsTer30
XM_006717889.4:c.6443del (PLCE1)	XP_006717952.1:p.Arg2148GlnfsTer30
XM_006717890.3:c.5567del (PLCE1)	XP_006717953.1:p.Arg1856GlnfsTer30
XM_011539849.3:c.6491del (PLCE1)	XP_011538151.1:p.Arg2164GlnfsTer30
XM_011539850.3:c.5336del (PLCE1)	XP_011538152.1:p.Arg1779GlnfsTer30
XM_017016310.2:c.6491del (PLCE1)	XP_016871799.1:p.Arg2164GlnfsTer30
XM_017016311.2:c.6491del (PLCE1)	XP_016871800.1:p.Arg2164GlnfsTer30
XM_017016312.2:c.5477del (PLCE1)	XP_016871801.1:p.Arg1826GlnfsTer30
XR_002957007.1:n.3312-6543del (NOC3L)
NM_001288989.2:c.6401del (PLCE1)	NP_001275918.1:p.Arg2134GlnfsTer30
NM_016341.4:c.6449del (PLCE1) MANE Select	NP_057425.3:p.Arg2150GlnfsTer30