Canonical Allele Identifier: CA1928998396

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052919823

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298443_94298451del , CM000672.2:g.94298443_94298451del	GRCh38
NC_000010.10:g.96058200_96058208del , CM000672.1:g.96058200_96058208del	GRCh37
NC_000010.9:g.96048190_96048198del	NCBI36
NG_015799.1:g.309455_309463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4308_4316del	ENSP00000360426.1:p.Leu1437_Ala1439del
ENST00000685253.1:c.*1775_*1783del	ENSP00000509405.1:n.*1775_*1783del
ENST00000685889.1:n.1967_1975del
ENST00000686807.1:n.651_659del
ENST00000686954.1:c.*516_*524del	ENSP00000508416.1:n.*516_*524del
ENST00000688810.1:c.4260_4268del	ENSP00000509140.1:p.Leu1421_Ala1423del
ENST00000689233.1:n.9440_9448del
ENST00000690340.1:n.2905_2913del
ENST00000692286.1:c.5100_5108del	ENSP00000509490.1:p.Leu1701_Ala1703del
ENST00000692396.1:c.5184_5192del	ENSP00000508605.1:p.Leu1729_Ala1731del
ENST00000371380.8:c.5232_5240del MANE Select	ENSP00000360431.2:p.Leu1745_Ala1747del
ENST00000371385.8:c.4206_4214del	ENSP00000360438.4:p.Leu1403_Ala1405del
ENST00000674738.1:c.3787_3795del
ENST00000674827.1:c.3348_3356del	ENSP00000502523.1:p.Leu1117_Ala1119del
ENST00000675218.1:c.4308_4316del	ENSP00000501910.1:p.Leu1437_Ala1439del
ENST00000675487.1:c.*1165_*1173del	ENSP00000502340.1:n.*1165_*1173del
ENST00000675718.1:c.4501_4509del
ENST00000676102.1:c.4077_4085del	ENSP00000502811.1:p.Leu1360_Ala1362del
ENST00000260766.7:c.5232_5240del	ENSP00000260766.3:p.Leu1745_Ala1747del
ENST00000371375.1:c.4308_4316del	ENSP00000360426.1:p.Leu1437_Ala1439del
ENST00000371380.7:c.5232_5240del	ENSP00000360431.2:p.Leu1745_Ala1747del
ENST00000371385.7:c.4308_4316del	ENSP00000360438.3:p.Leu1437_Ala1439del
NM_001165979.2:c.4308_4316del	NP_001159451.1:p.Leu1437_Ala1439del
NM_001288989.1:c.5184_5192del	NP_001275918.1:p.Leu1729_Ala1731del
NM_016341.3:c.5232_5240del	NP_057425.3:p.Leu1745_Ala1747del
XM_006717885.2:c.5274_5282del	XP_006717948.1:p.Leu1759_Ala1761del
XM_006717886.2:c.5274_5282del	XP_006717949.1:p.Leu1759_Ala1761del
XM_006717888.2:c.5271_5279del	XP_006717951.1:p.Leu1758_Ala1760del
XM_006717889.2:c.5226_5234del	XP_006717952.1:p.Leu1743_Ala1745del
XM_006717890.1:c.4350_4358del	XP_006717953.1:p.Leu1451_Ala1453del
XM_011539849.1:c.5274_5282del	XP_011538151.1:p.Leu1759_Ala1761del
XM_011539850.1:c.4119_4127del	XP_011538152.1:p.Leu1374_Ala1376del
XM_006717885.4:c.5274_5282del	XP_006717948.1:p.Leu1759_Ala1761del
XM_006717888.4:c.5271_5279del	XP_006717951.1:p.Leu1758_Ala1760del
XM_006717889.4:c.5226_5234del	XP_006717952.1:p.Leu1743_Ala1745del
XM_006717890.3:c.4350_4358del	XP_006717953.1:p.Leu1451_Ala1453del
XM_011539849.3:c.5274_5282del	XP_011538151.1:p.Leu1759_Ala1761del
XM_011539850.3:c.4119_4127del	XP_011538152.1:p.Leu1374_Ala1376del
XM_017016310.2:c.5274_5282del	XP_016871799.1:p.Leu1759_Ala1761del
XM_017016311.2:c.5274_5282del	XP_016871800.1:p.Leu1759_Ala1761del
XM_017016312.2:c.4260_4268del	XP_016871801.1:p.Leu1421_Ala1423del
NM_001288989.2:c.5184_5192del	NP_001275918.1:p.Leu1729_Ala1731del
NM_016341.4:c.5232_5240del MANE Select	NP_057425.3:p.Leu1745_Ala1747del