Canonical Allele Identifier: CA5613712

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs751602724
• ExAC: 10:96087768 A / AAAAAT
• gnomAD v2: 10-96087768-A-AAAAAT
• gnomAD v3: 10-94328011-A-AAAAAT
• gnomAD v4: 10-94328011-A-AAAAAT
• MyVariant Identifiers: chr10:g.96087768_96087769insAAAAT (hg19) ; chr10:g.94328011_94328012insAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94328013_94328017dup , CM000672.2:g.94328013_94328017dup	GRCh38
NC_000010.10:g.96087770_96087774dup , CM000672.1:g.96087770_96087774dup	GRCh37
NC_000010.9:g.96077760_96077764dup	NCBI36
NG_015799.1:g.339025_339029dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.8918_8922dup (PLCE1)	ENSP00000360426.1:n.8918_8922dup
ENST00000688810.1:c.6007_6011dup (PLCE1)	ENSP00000509140.1:n.6007_6011dup
ENST00000690340.1:n.4623_4627dup (PLCE1)
ENST00000692396.1:c.*70_*74dup (PLCE1)	ENSP00000508605.1:n.*70_*74dup
ENST00000371380.8:c.*70_*74dup (PLCE1) MANE Select	ENSP00000360431.2:n.*70_*74dup
ENST00000371385.8:c.*70_*74dup (PLCE1)	ENSP00000360438.4:n.*70_*74dup
ENST00000675218.1:c.6055_6059dup (PLCE1)	ENSP00000501910.1:n.6055_6059dup
ENST00000675487.1:c.*2912_*2916dup (PLCE1)	ENSP00000502340.1:n.*2912_*2916dup
ENST00000260766.7:c.*70_*74dup (PLCE1)	ENSP00000260766.3:n.*70_*74dup
ENST00000371380.7:c.*70_*74dup (PLCE1)	ENSP00000360431.2:n.*70_*74dup
ENST00000371385.7:c.*70_*74dup (PLCE1)	ENSP00000360438.3:n.*70_*74dup
NM_001165979.2:c.*70_*74dup (PLCE1)	NP_001159451.1:n.*70_*74dup
NM_001288989.1:c.*70_*74dup (PLCE1)	NP_001275918.1:n.*70_*74dup
NM_016341.3:c.*70_*74dup (PLCE1)	NP_057425.3:n.*70_*74dup
XM_006717885.2:c.*70_*74dup (PLCE1)	XP_006717948.1:n.*70_*74dup
XM_006717888.2:c.*70_*74dup (PLCE1)	XP_006717951.1:n.*70_*74dup
XM_006717889.2:c.*70_*74dup (PLCE1)	XP_006717952.1:n.*70_*74dup
XM_006717890.1:c.*70_*74dup (PLCE1)	XP_006717953.1:n.*70_*74dup
XM_011539849.1:c.*70_*74dup (PLCE1)	XP_011538151.1:n.*70_*74dup
XM_011539850.1:c.*70_*74dup (PLCE1)	XP_011538152.1:n.*70_*74dup
XR_945799.1:n.3310+5374_3310+5378dup (NOC3L)
XM_006717885.4:c.*70_*74dup (PLCE1)	XP_006717948.1:n.*70_*74dup
XM_006717888.4:c.*70_*74dup (PLCE1)	XP_006717951.1:n.*70_*74dup
XM_006717889.4:c.*70_*74dup (PLCE1)	XP_006717952.1:n.*70_*74dup
XM_006717890.3:c.*70_*74dup (PLCE1)	XP_006717953.1:n.*70_*74dup
XM_011539849.3:c.*70_*74dup (PLCE1)	XP_011538151.1:n.*70_*74dup
XM_011539850.3:c.*70_*74dup (PLCE1)	XP_011538152.1:n.*70_*74dup
XM_017016310.2:c.*70_*74dup (PLCE1)	XP_016871799.1:n.*70_*74dup
XM_017016312.2:c.*70_*74dup (PLCE1)	XP_016871801.1:n.*70_*74dup
XR_002957007.1:n.3311+5374_3311+5378dup (NOC3L)
NM_001288989.2:c.*70_*74dup (PLCE1)	NP_001275918.1:n.*70_*74dup
NM_016341.4:c.*70_*74dup (PLCE1) MANE Select	NP_057425.3:n.*70_*74dup