Canonical Allele Identifier: CA595638142

Gene: PLCE1 PLCE1-AS1

Linked Data

• dbSNP Id: rs1431424214
• gnomAD v2: 10-96039545-CAGTT-C
• gnomAD v4: 10-94279788-CAGTT-C
• MyVariant Identifiers: chr10:g.96039546_96039549del (hg19) ; chr10:g.94279789_94279792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94279791_94279794del , CM000672.2:g.94279791_94279794del	GRCh38
NC_000010.10:g.96039548_96039551del , CM000672.1:g.96039548_96039551del	GRCh37
NC_000010.9:g.96029538_96029541del	NCBI36
NG_015799.1:g.290803_290806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.3751_3754del (PLCE1)	ENSP00000360426.1:p.Leu1251HisfsTer?
ENST00000685253.1:c.*1218_*1221del (PLCE1)	ENSP00000509405.1:n.*1218_*1221del
ENST00000685889.1:n.1410_1413del (PLCE1)
ENST00000686954.1:c.4675_4678del (PLCE1)	ENSP00000508416.1:p.Leu1559HisfsTer?
ENST00000688810.1:c.3703_3706del (PLCE1)	ENSP00000509140.1:p.Leu1235HisfsTer?
ENST00000689233.1:n.5005_5008del (PLCE1)
ENST00000692286.1:c.4675_4678del (PLCE1)	ENSP00000509490.1:p.Leu1559HisfsTer?
ENST00000692396.1:c.4627_4630del (PLCE1)	ENSP00000508605.1:p.Leu1543HisfsTer?
ENST00000371380.8:c.4675_4678del (PLCE1) MANE Select	ENSP00000360431.2:p.Leu1559HisfsTer?
ENST00000371385.8:c.3649_3652del (PLCE1)	ENSP00000360438.4:p.Leu1217HisfsTer?
ENST00000674738.1:c.3080_3083del (PLCE1)
ENST00000674827.1:c.2752_2755del (PLCE1)	ENSP00000502523.1:p.Leu918HisfsTer?
ENST00000675218.1:c.3751_3754del (PLCE1)	ENSP00000501910.1:p.Leu1251HisfsTer?
ENST00000675487.1:c.*608_*611del (PLCE1)	ENSP00000502340.1:n.*608_*611del
ENST00000675718.1:c.3902_3905del (PLCE1)
ENST00000676102.1:c.3520_3523del (PLCE1)	ENSP00000502811.1:p.Leu1174HisfsTer?
ENST00000260766.7:c.4675_4678del (PLCE1)	ENSP00000260766.3:p.Leu1559HisfsTer?
ENST00000371375.1:c.3751_3754del (PLCE1)	ENSP00000360426.1:p.Leu1251HisfsTer?
ENST00000371380.7:c.4675_4678del (PLCE1)	ENSP00000360431.2:p.Leu1559HisfsTer?
ENST00000371385.7:c.3751_3754del (PLCE1)	ENSP00000360438.3:p.Leu1251HisfsTer?
NM_001165979.2:c.3751_3754del (PLCE1)	NP_001159451.1:p.Leu1251HisfsTer?
NM_001288989.1:c.4627_4630del (PLCE1)	NP_001275918.1:p.Leu1543HisfsTer?
NM_016341.3:c.4675_4678del (PLCE1)	NP_057425.3:p.Leu1559HisfsTer?
NR_033969.1:n.906_909del (PLCE1-AS1)
XM_006717885.2:c.4675_4678del (PLCE1)	XP_006717948.1:p.Leu1559HisfsTer?
XM_006717886.2:c.4675_4678del (PLCE1)	XP_006717949.1:p.Leu1559HisfsTer?
XM_006717888.2:c.4675_4678del (PLCE1)	XP_006717951.1:p.Leu1559HisfsTer?
XM_006717889.2:c.4627_4630del (PLCE1)	XP_006717952.1:p.Leu1543HisfsTer?
XM_006717890.1:c.3751_3754del (PLCE1)	XP_006717953.1:p.Leu1251HisfsTer?
XM_011539849.1:c.4675_4678del (PLCE1)	XP_011538151.1:p.Leu1559HisfsTer?
XM_011539850.1:c.3520_3523del (PLCE1)	XP_011538152.1:p.Leu1174HisfsTer?
XM_011539851.1:c.4675_4678del (PLCE1)	XP_011538153.1:p.Leu1559HisfsTer?
XM_011539852.1:c.4675_4678del (PLCE1)	XP_011538154.1:p.Leu1559HisfsTer?
XM_006717885.4:c.4675_4678del (PLCE1)	XP_006717948.1:p.Leu1559HisfsTer?
XM_006717888.4:c.4675_4678del (PLCE1)	XP_006717951.1:p.Leu1559HisfsTer?
XM_006717889.4:c.4627_4630del (PLCE1)	XP_006717952.1:p.Leu1543HisfsTer?
XM_006717890.3:c.3751_3754del (PLCE1)	XP_006717953.1:p.Leu1251HisfsTer?
XM_011539849.3:c.4675_4678del (PLCE1)	XP_011538151.1:p.Leu1559HisfsTer?
XM_011539850.3:c.3520_3523del (PLCE1)	XP_011538152.1:p.Leu1174HisfsTer?
XM_011539851.3:c.4675_4678del (PLCE1)	XP_011538153.1:p.Leu1559HisfsTer?
XM_011539852.3:c.4675_4678del (PLCE1)	XP_011538154.1:p.Leu1559HisfsTer?
XM_017016310.2:c.4675_4678del (PLCE1)	XP_016871799.1:p.Leu1559HisfsTer?
XM_017016311.2:c.4675_4678del (PLCE1)	XP_016871800.1:p.Leu1559HisfsTer?
XM_017016312.2:c.3703_3706del (PLCE1)	XP_016871801.1:p.Leu1235HisfsTer?
NM_001288989.2:c.4627_4630del (PLCE1)	NP_001275918.1:p.Leu1543HisfsTer?
NM_016341.4:c.4675_4678del (PLCE1) MANE Select	NP_057425.3:p.Leu1559HisfsTer?