Canonical Allele Identifier: CA2610239523

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293694-G-GACAGTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293695_94293696insCAGTAAAA , CM000672.2:g.94293695_94293696insCAGTAAAA	GRCh38
NC_000010.10:g.96053452_96053453insCAGTAAAA , CM000672.1:g.96053452_96053453insCAGTAAAA	GRCh37
NC_000010.9:g.96043442_96043443insCAGTAAAA	NCBI36
NG_015799.1:g.304707_304708insCAGTAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4243+56_4243+57insCAGTAAAA	ENSP00000360426.1:n.4243+56_4243+57insCAG...
ENST00000685253.1:c.*1710+56_*1710+57insCAGTAAAA	ENSP00000509405.1:n.*1710+56_*1710+57insC...
ENST00000685889.1:n.1902+56_1902+57insCAGTAAAA
ENST00000686807.1:n.586+56_586+57insCAGTAAAA
ENST00000686954.1:c.*451+56_*451+57insCAGTAAAA	ENSP00000508416.1:n.*451+56_*451+57insCAG...
ENST00000688810.1:c.4195+56_4195+57insCAGTAAAA	ENSP00000509140.1:n.4195+56_4195+57insCAG...
ENST00000689233.1:n.9375+56_9375+57insCAGTAAAA
ENST00000690340.1:n.2840+56_2840+57insCAGTAAAA
ENST00000692286.1:c.5036-4684_5036-4683insCAGTAAAA	ENSP00000509490.1:n.5036-4684_5036-4683in...
ENST00000692396.1:c.5119+56_5119+57insCAGTAAAA	ENSP00000508605.1:n.5119+56_5119+57insCAG...
ENST00000371380.8:c.5167+56_5167+57insCAGTAAAA MANE Select	ENSP00000360431.2:n.5167+56_5167+57insCAG...
ENST00000371385.8:c.4141+56_4141+57insCAGTAAAA	ENSP00000360438.4:n.4141+56_4141+57insCAG...
ENST00000674738.1:c.3722+56_3722+57insCAGTAAAA
ENST00000674827.1:c.3283+56_3283+57insCAGTAAAA	ENSP00000502523.1:n.3283+56_3283+57insCAG...
ENST00000675218.1:c.4243+56_4243+57insCAGTAAAA	ENSP00000501910.1:n.4243+56_4243+57insCAG...
ENST00000675487.1:c.*1100+56_*1100+57insCAGTAAAA	ENSP00000502340.1:n.*1100+56_*1100+57insC...
ENST00000675718.1:c.4436+56_4436+57insCAGTAAAA
ENST00000676102.1:c.4012+56_4012+57insCAGTAAAA	ENSP00000502811.1:n.4012+56_4012+57insCAG...
ENST00000260766.7:c.5167+56_5167+57insCAGTAAAA	ENSP00000260766.3:n.5167+56_5167+57insCAG...
ENST00000371375.1:c.4243+56_4243+57insCAGTAAAA	ENSP00000360426.1:n.4243+56_4243+57insCAG...
ENST00000371380.7:c.5167+56_5167+57insCAGTAAAA	ENSP00000360431.2:n.5167+56_5167+57insCAG...
ENST00000371385.7:c.4243+56_4243+57insCAGTAAAA	ENSP00000360438.3:n.4243+56_4243+57insCAG...
NM_001165979.2:c.4243+56_4243+57insCAGTAAAA	NP_001159451.1:n.4243+56_4243+57insCAGTAA...
NM_001288989.1:c.5119+56_5119+57insCAGTAAAA	NP_001275918.1:n.5119+56_5119+57insCAGTAA...
NM_016341.3:c.5167+56_5167+57insCAGTAAAA	NP_057425.3:n.5167+56_5167+57insCAGTAAAA
XM_006717885.2:c.5209+56_5209+57insCAGTAAAA	XP_006717948.1:n.5209+56_5209+57insCAGTAA...
XM_006717886.2:c.5209+56_5209+57insCAGTAAAA	XP_006717949.1:n.5209+56_5209+57insCAGTAA...
XM_006717888.2:c.5206+56_5206+57insCAGTAAAA	XP_006717951.1:n.5206+56_5206+57insCAGTAA...
XM_006717889.2:c.5161+56_5161+57insCAGTAAAA	XP_006717952.1:n.5161+56_5161+57insCAGTAA...
XM_006717890.1:c.4285+56_4285+57insCAGTAAAA	XP_006717953.1:n.4285+56_4285+57insCAGTAA...
XM_011539849.1:c.5209+56_5209+57insCAGTAAAA	XP_011538151.1:n.5209+56_5209+57insCAGTAA...
XM_011539850.1:c.4054+56_4054+57insCAGTAAAA	XP_011538152.1:n.4054+56_4054+57insCAGTAA...
XM_006717885.4:c.5209+56_5209+57insCAGTAAAA	XP_006717948.1:n.5209+56_5209+57insCAGTAA...
XM_006717888.4:c.5206+56_5206+57insCAGTAAAA	XP_006717951.1:n.5206+56_5206+57insCAGTAA...
XM_006717889.4:c.5161+56_5161+57insCAGTAAAA	XP_006717952.1:n.5161+56_5161+57insCAGTAA...
XM_006717890.3:c.4285+56_4285+57insCAGTAAAA	XP_006717953.1:n.4285+56_4285+57insCAGTAA...
XM_011539849.3:c.5209+56_5209+57insCAGTAAAA	XP_011538151.1:n.5209+56_5209+57insCAGTAA...
XM_011539850.3:c.4054+56_4054+57insCAGTAAAA	XP_011538152.1:n.4054+56_4054+57insCAGTAA...
XM_017016310.2:c.5209+56_5209+57insCAGTAAAA	XP_016871799.1:n.5209+56_5209+57insCAGTAA...
XM_017016311.2:c.5209+56_5209+57insCAGTAAAA	XP_016871800.1:n.5209+56_5209+57insCAGTAA...
XM_017016312.2:c.4195+56_4195+57insCAGTAAAA	XP_016871801.1:n.4195+56_4195+57insCAGTAA...
NM_001288989.2:c.5119+56_5119+57insCAGTAAAA	NP_001275918.1:n.5119+56_5119+57insCAGTAA...
NM_016341.4:c.5167+56_5167+57insCAGTAAAA MANE Select	NP_057425.3:n.5167+56_5167+57insCAGTAAAA