Canonical Allele Identifier: CA1928998365

Gene: PLCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298381_94298382delinsTC , CM000672.2:g.94298381_94298382delinsTC	GRCh38
NC_000010.10:g.96058138_96058139delinsTC , CM000672.1:g.96058138_96058139delinsTC	GRCh37
NC_000010.9:g.96048128_96048129delinsTC	NCBI36
NG_015799.1:g.309393_309394delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4246_4247delinsTC	ENSP00000360426.1:p.Ser1416=
ENST00000685253.1:c.*1713_*1714delinsTC	ENSP00000509405.1:n.*1713_*1714delinsTC
ENST00000685889.1:n.1905_1906delinsTC
ENST00000686807.1:n.589_590delinsTC
ENST00000686954.1:c.*454_*455delinsTC	ENSP00000508416.1:n.*454_*455delinsTC
ENST00000688810.1:c.4198_4199delinsTC	ENSP00000509140.1:p.Ser1400=
ENST00000689233.1:n.9378_9379delinsTC
ENST00000690340.1:n.2843_2844delinsTC
ENST00000692286.1:c.5038_5039delinsTC	ENSP00000509490.1:p.Ser1680=
ENST00000692396.1:c.5122_5123delinsTC	ENSP00000508605.1:p.Ser1708=
ENST00000371380.8:c.5170_5171delinsTC MANE Select	ENSP00000360431.2:p.Ser1724=
ENST00000371385.8:c.4144_4145delinsTC	ENSP00000360438.4:p.Ser1382=
ENST00000674738.1:c.3725_3726delinsTC
ENST00000674827.1:c.3286_3287delinsTC	ENSP00000502523.1:p.Ser1096=
ENST00000675218.1:c.4246_4247delinsTC	ENSP00000501910.1:p.Ser1416=
ENST00000675487.1:c.*1103_*1104delinsTC	ENSP00000502340.1:n.*1103_*1104delinsTC
ENST00000675718.1:c.4439_4440delinsTC
ENST00000676102.1:c.4015_4016delinsTC	ENSP00000502811.1:p.Ser1339=
ENST00000260766.7:c.5170_5171delinsTC	ENSP00000260766.3:p.Ser1724=
ENST00000371375.1:c.4246_4247delinsTC	ENSP00000360426.1:p.Ser1416=
ENST00000371380.7:c.5170_5171delinsTC	ENSP00000360431.2:p.Ser1724=
ENST00000371385.7:c.4246_4247delinsTC	ENSP00000360438.3:p.Ser1416=
NM_001165979.2:c.4246_4247delinsTC	NP_001159451.1:p.Ser1416=
NM_001288989.1:c.5122_5123delinsTC	NP_001275918.1:p.Ser1708=
NM_016341.3:c.5170_5171delinsTC	NP_057425.3:p.Ser1724=
XM_006717885.2:c.5212_5213delinsTC	XP_006717948.1:p.Ser1738=
XM_006717886.2:c.5212_5213delinsTC	XP_006717949.1:p.Ser1738=
XM_006717888.2:c.5209_5210delinsTC	XP_006717951.1:p.Ser1737=
XM_006717889.2:c.5164_5165delinsTC	XP_006717952.1:p.Ser1722=
XM_006717890.1:c.4288_4289delinsTC	XP_006717953.1:p.Ser1430=
XM_011539849.1:c.5212_5213delinsTC	XP_011538151.1:p.Ser1738=
XM_011539850.1:c.4057_4058delinsTC	XP_011538152.1:p.Ser1353=
XM_006717885.4:c.5212_5213delinsTC	XP_006717948.1:p.Ser1738=
XM_006717888.4:c.5209_5210delinsTC	XP_006717951.1:p.Ser1737=
XM_006717889.4:c.5164_5165delinsTC	XP_006717952.1:p.Ser1722=
XM_006717890.3:c.4288_4289delinsTC	XP_006717953.1:p.Ser1430=
XM_011539849.3:c.5212_5213delinsTC	XP_011538151.1:p.Ser1738=
XM_011539850.3:c.4057_4058delinsTC	XP_011538152.1:p.Ser1353=
XM_017016310.2:c.5212_5213delinsTC	XP_016871799.1:p.Ser1738=
XM_017016311.2:c.5212_5213delinsTC	XP_016871800.1:p.Ser1738=
XM_017016312.2:c.4198_4199delinsTC	XP_016871801.1:p.Ser1400=
NM_001288989.2:c.5122_5123delinsTC	NP_001275918.1:p.Ser1708=
NM_016341.4:c.5170_5171delinsTC MANE Select	NP_057425.3:p.Ser1724=