Canonical Allele Identifier: CA5613293

Gene: PLCE1

Linked Data

• dbSNP Id: rs745849175
• ExAC: 10:96053380 CA / C
• gnomAD v2: 10-96053380-CA-C
• gnomAD v4: 10-94293623-CA-C
• MyVariant Identifiers: chr10:g.96053381del (hg19) ; chr10:g.94293624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293627del , CM000672.2:g.94293627del	GRCh38
NC_000010.10:g.96053384del , CM000672.1:g.96053384del	GRCh37
NC_000010.9:g.96043374del	NCBI36
NG_015799.1:g.304639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4231del	ENSP00000360426.1:p.Thr1411HisfsTer?
ENST00000685253.1:c.*1698del	ENSP00000509405.1:n.*1698del
ENST00000685889.1:n.1890del
ENST00000686807.1:n.574del
ENST00000686954.1:c.*439del	ENSP00000508416.1:n.*439del
ENST00000688810.1:c.4183del	ENSP00000509140.1:p.Thr1395HisfsTer?
ENST00000689233.1:n.9363del
ENST00000690340.1:n.2828del
ENST00000692286.1:c.5036-4752del	ENSP00000509490.1:n.5036-4752del
ENST00000692396.1:c.5107del	ENSP00000508605.1:p.Thr1703HisfsTer?
ENST00000371380.8:c.5155del MANE Select	ENSP00000360431.2:p.Thr1719HisfsTer?
ENST00000371385.8:c.4129del	ENSP00000360438.4:p.Thr1377HisfsTer?
ENST00000674738.1:c.3710del
ENST00000674827.1:c.3271del	ENSP00000502523.1:p.Thr1091HisfsTer?
ENST00000675218.1:c.4231del	ENSP00000501910.1:p.Thr1411HisfsTer?
ENST00000675487.1:c.*1088del	ENSP00000502340.1:n.*1088del
ENST00000675718.1:c.4424del
ENST00000676102.1:c.4000del	ENSP00000502811.1:p.Thr1334HisfsTer?
ENST00000260766.7:c.5155del	ENSP00000260766.3:p.Thr1719HisfsTer?
ENST00000371375.1:c.4231del	ENSP00000360426.1:p.Thr1411HisfsTer?
ENST00000371380.7:c.5155del	ENSP00000360431.2:p.Thr1719HisfsTer?
ENST00000371385.7:c.4231del	ENSP00000360438.3:p.Thr1411HisfsTer?
NM_001165979.2:c.4231del	NP_001159451.1:p.Thr1411HisfsTer?
NM_001288989.1:c.5107del	NP_001275918.1:p.Thr1703HisfsTer?
NM_016341.3:c.5155del	NP_057425.3:p.Thr1719HisfsTer?
XM_006717885.2:c.5197del	XP_006717948.1:p.Thr1733HisfsTer?
XM_006717886.2:c.5197del	XP_006717949.1:p.Thr1733HisfsTer?
XM_006717888.2:c.5194del	XP_006717951.1:p.Thr1732HisfsTer?
XM_006717889.2:c.5149del	XP_006717952.1:p.Thr1717HisfsTer?
XM_006717890.1:c.4273del	XP_006717953.1:p.Thr1425HisfsTer?
XM_011539849.1:c.5197del	XP_011538151.1:p.Thr1733HisfsTer?
XM_011539850.1:c.4042del	XP_011538152.1:p.Thr1348HisfsTer?
XM_006717885.4:c.5197del	XP_006717948.1:p.Thr1733HisfsTer?
XM_006717888.4:c.5194del	XP_006717951.1:p.Thr1732HisfsTer?
XM_006717889.4:c.5149del	XP_006717952.1:p.Thr1717HisfsTer?
XM_006717890.3:c.4273del	XP_006717953.1:p.Thr1425HisfsTer?
XM_011539849.3:c.5197del	XP_011538151.1:p.Thr1733HisfsTer?
XM_011539850.3:c.4042del	XP_011538152.1:p.Thr1348HisfsTer?
XM_017016310.2:c.5197del	XP_016871799.1:p.Thr1733HisfsTer?
XM_017016311.2:c.5197del	XP_016871800.1:p.Thr1733HisfsTer?
XM_017016312.2:c.4183del	XP_016871801.1:p.Thr1395HisfsTer?
NM_001288989.2:c.5107del	NP_001275918.1:p.Thr1703HisfsTer?
NM_016341.4:c.5155del MANE Select	NP_057425.3:p.Thr1719HisfsTer?