Canonical Allele Identifier: CA595297191

Gene: PLCE1

Linked Data

• dbSNP Id: rs1485014769
• gnomAD v2: 10-96070363-CAA-C
• gnomAD v3: 10-94310606-CAA-C
• gnomAD v4: 10-94310606-CAA-C
• MyVariant Identifiers: chr10:g.96070364_96070365del (hg19) ; chr10:g.94310607_94310608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94310608_94310609del , CM000672.2:g.94310608_94310609del	GRCh38
NC_000010.10:g.96070365_96070366del , CM000672.1:g.96070365_96070366del	GRCh37
NC_000010.9:g.96060355_96060356del	NCBI36
NG_015799.1:g.321620_321621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5079+1909_5079+1910del	ENSP00000360426.1:n.5079+1909_5079+1910del
ENST00000685132.1:n.967_968del
ENST00000685253.1:c.*2546+1909_*2546+1910del	ENSP00000509405.1:n.*2546+1909_*2546+1910del
ENST00000685889.1:n.2738+1909_2738+1910del
ENST00000686807.1:n.1422+1909_1422+1910del
ENST00000686954.1:c.*1287+1909_*1287+1910del	ENSP00000508416.1:n.*1287+1909_*1287+1910del
ENST00000688810.1:c.5031+1909_5031+1910del	ENSP00000509140.1:n.5031+1909_5031+1910del
ENST00000689233.1:n.10211+1909_10211+1910del
ENST00000690340.1:n.3676+1909_3676+1910del
ENST00000692286.1:c.5871+1909_5871+1910del	ENSP00000509490.1:n.5871+1909_5871+1910del
ENST00000692396.1:c.5955+1909_5955+1910del	ENSP00000508605.1:n.5955+1909_5955+1910del
ENST00000371380.8:c.6003+1909_6003+1910del MANE Select	ENSP00000360431.2:n.6003+1909_6003+1910del
ENST00000371385.8:c.4977+1909_4977+1910del	ENSP00000360438.4:n.4977+1909_4977+1910del
ENST00000674738.1:c.4558+1909_4558+1910del
ENST00000674827.1:c.4119+1909_4119+1910del	ENSP00000502523.1:n.4119+1909_4119+1910del
ENST00000675218.1:c.5079+1909_5079+1910del	ENSP00000501910.1:n.5079+1909_5079+1910del
ENST00000675487.1:c.*1936+1909_*1936+1910del	ENSP00000502340.1:n.*1936+1909_*1936+1910del
ENST00000675718.1:c.5272+1909_5272+1910del
ENST00000260766.7:c.6003+1909_6003+1910del	ENSP00000260766.3:n.6003+1909_6003+1910del
ENST00000371375.1:c.5079+1909_5079+1910del	ENSP00000360426.1:n.5079+1909_5079+1910del
ENST00000371380.7:c.6003+1909_6003+1910del	ENSP00000360431.2:n.6003+1909_6003+1910del
ENST00000371385.7:c.5079+1909_5079+1910del	ENSP00000360438.3:n.5079+1909_5079+1910del
NM_001165979.2:c.5079+1909_5079+1910del	NP_001159451.1:n.5079+1909_5079+1910del
NM_001288989.1:c.5955+1909_5955+1910del	NP_001275918.1:n.5955+1909_5955+1910del
NM_016341.3:c.6003+1909_6003+1910del	NP_057425.3:n.6003+1909_6003+1910del
XM_006717885.2:c.6045+1909_6045+1910del	XP_006717948.1:n.6045+1909_6045+1910del
XM_006717886.2:c.6045+1909_6045+1910del	XP_006717949.1:n.6045+1909_6045+1910del
XM_006717888.2:c.6042+1909_6042+1910del	XP_006717951.1:n.6042+1909_6042+1910del
XM_006717889.2:c.5997+1909_5997+1910del	XP_006717952.1:n.5997+1909_5997+1910del
XM_006717890.1:c.5121+1909_5121+1910del	XP_006717953.1:n.5121+1909_5121+1910del
XM_011539849.1:c.6045+1909_6045+1910del	XP_011538151.1:n.6045+1909_6045+1910del
XM_011539850.1:c.4890+1909_4890+1910del	XP_011538152.1:n.4890+1909_4890+1910del
XM_006717885.4:c.6045+1909_6045+1910del	XP_006717948.1:n.6045+1909_6045+1910del
XM_006717888.4:c.6042+1909_6042+1910del	XP_006717951.1:n.6042+1909_6042+1910del
XM_006717889.4:c.5997+1909_5997+1910del	XP_006717952.1:n.5997+1909_5997+1910del
XM_006717890.3:c.5121+1909_5121+1910del	XP_006717953.1:n.5121+1909_5121+1910del
XM_011539849.3:c.6045+1909_6045+1910del	XP_011538151.1:n.6045+1909_6045+1910del
XM_011539850.3:c.4890+1909_4890+1910del	XP_011538152.1:n.4890+1909_4890+1910del
XM_017016310.2:c.6045+1909_6045+1910del	XP_016871799.1:n.6045+1909_6045+1910del
XM_017016311.2:c.6045+1909_6045+1910del	XP_016871800.1:n.6045+1909_6045+1910del
XM_017016312.2:c.5031+1909_5031+1910del	XP_016871801.1:n.5031+1909_5031+1910del
NM_001288989.2:c.5955+1909_5955+1910del	NP_001275918.1:n.5955+1909_5955+1910del
NM_016341.4:c.6003+1909_6003+1910del MANE Select	NP_057425.3:n.6003+1909_6003+1910del