Canonical Allele Identifier: CA2610239652

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94298641-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298642del , CM000672.2:g.94298642del	GRCh38
NC_000010.10:g.96058399del , CM000672.1:g.96058399del	GRCh37
NC_000010.9:g.96048389del	NCBI36
NG_015799.1:g.309654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4507del	ENSP00000360426.1:p.Val1504TrpfsTer14
ENST00000685253.1:c.*1974del	ENSP00000509405.1:n.*1974del
ENST00000685889.1:n.2166del
ENST00000686807.1:n.850del
ENST00000686954.1:c.*715del	ENSP00000508416.1:n.*715del
ENST00000688810.1:c.4459del	ENSP00000509140.1:p.Val1488TrpfsTer14
ENST00000689233.1:n.9639del
ENST00000690340.1:n.3104del
ENST00000692286.1:c.5299del	ENSP00000509490.1:p.Val1768TrpfsTer14
ENST00000692396.1:c.5383del	ENSP00000508605.1:p.Val1796TrpfsTer14
ENST00000371380.8:c.5431del MANE Select	ENSP00000360431.2:p.Val1812TrpfsTer14
ENST00000371385.8:c.4405del	ENSP00000360438.4:p.Val1470TrpfsTer14
ENST00000674738.1:c.3986del
ENST00000674827.1:c.3547del	ENSP00000502523.1:p.Val1184TrpfsTer14
ENST00000675218.1:c.4507del	ENSP00000501910.1:p.Val1504TrpfsTer14
ENST00000675487.1:c.*1364del	ENSP00000502340.1:n.*1364del
ENST00000675718.1:c.4700del
ENST00000260766.7:c.5431del	ENSP00000260766.3:p.Val1812TrpfsTer14
ENST00000371375.1:c.4507del	ENSP00000360426.1:p.Val1504TrpfsTer14
ENST00000371380.7:c.5431del	ENSP00000360431.2:p.Val1812TrpfsTer14
ENST00000371385.7:c.4507del	ENSP00000360438.3:p.Val1504TrpfsTer14
NM_001165979.2:c.4507del	NP_001159451.1:p.Val1504TrpfsTer14
NM_001288989.1:c.5383del	NP_001275918.1:p.Val1796TrpfsTer14
NM_016341.3:c.5431del	NP_057425.3:p.Val1812TrpfsTer14
XM_006717885.2:c.5473del	XP_006717948.1:p.Val1826TrpfsTer14
XM_006717886.2:c.5473del	XP_006717949.1:p.Val1826TrpfsTer14
XM_006717888.2:c.5470del	XP_006717951.1:p.Val1825TrpfsTer14
XM_006717889.2:c.5425del	XP_006717952.1:p.Val1810TrpfsTer14
XM_006717890.1:c.4549del	XP_006717953.1:p.Val1518TrpfsTer14
XM_011539849.1:c.5473del	XP_011538151.1:p.Val1826TrpfsTer14
XM_011539850.1:c.4318del	XP_011538152.1:p.Val1441TrpfsTer14
XM_006717885.4:c.5473del	XP_006717948.1:p.Val1826TrpfsTer14
XM_006717888.4:c.5470del	XP_006717951.1:p.Val1825TrpfsTer14
XM_006717889.4:c.5425del	XP_006717952.1:p.Val1810TrpfsTer14
XM_006717890.3:c.4549del	XP_006717953.1:p.Val1518TrpfsTer14
XM_011539849.3:c.5473del	XP_011538151.1:p.Val1826TrpfsTer14
XM_011539850.3:c.4318del	XP_011538152.1:p.Val1441TrpfsTer14
XM_017016310.2:c.5473del	XP_016871799.1:p.Val1826TrpfsTer14
XM_017016311.2:c.5473del	XP_016871800.1:p.Val1826TrpfsTer14
XM_017016312.2:c.4459del	XP_016871801.1:p.Val1488TrpfsTer14
NM_001288989.2:c.5383del	NP_001275918.1:p.Val1796TrpfsTer14
NM_016341.4:c.5431del MANE Select	NP_057425.3:p.Val1812TrpfsTer14