Linked Data
ClinVar Variation Id:
448044
dbSNP Id:
rs771798085
ExAC:
10:96084778 AAGG / A
gnomAD v2:
10-96084778-AAGG-A
gnomAD v3:
10-94325021-AAGG-A
gnomAD v4:
10-94325021-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94325027_94325029del , CM000672.2:g.94325027_94325029del | GRCh38 |
| NC_000010.10:g.96084784_96084786del , CM000672.1:g.96084784_96084786del | GRCh37 |
| NC_000010.9:g.96074774_96074776del | NCBI36 |
| NG_015799.1:g.336039_336041del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5932_5934del (PLCE1) | ENSP00000360426.1:p.Glu1978del | |
| ENST00000688810.1:c.5884_5886del (PLCE1) | ENSP00000509140.1:p.Glu1962del | |
| ENST00000689233.1:n.11064_11066del (PLCE1) | ||
| ENST00000690340.1:n.4500_4502del (PLCE1) | ||
| ENST00000692396.1:c.6808_6810del (PLCE1) | ENSP00000508605.1:p.Glu2270del | |
| ENST00000371380.8:c.6856_6858del (PLCE1) MANE Select | ENSP00000360431.2:p.Glu2286del | |
| ENST00000371385.8:c.5830_5832del (PLCE1) | ENSP00000360438.4:p.Glu1944del | |
| ENST00000675218.1:c.5932_5934del (PLCE1) | ENSP00000501910.1:p.Glu1978del | |
| ENST00000675487.1:c.*2789_*2791del (PLCE1) | ENSP00000502340.1:n.*2789_*2791del | |
| ENST00000260766.7:c.6856_6858del (PLCE1) | ENSP00000260766.3:p.Glu2286del | |
| ENST00000371375.1:c.5932_5934del (PLCE1) | ENSP00000360426.1:p.Glu1978del | |
| ENST00000371380.7:c.6856_6858del (PLCE1) | ENSP00000360431.2:p.Glu2286del | |
| ENST00000371385.7:c.5932_5934del (PLCE1) | ENSP00000360438.3:p.Glu1978del | |
| ENST00000464214.1:n.139_141del (PLCE1) | ||
| NM_001165979.2:c.5932_5934del (PLCE1) | NP_001159451.1:p.Glu1978del | |
| NM_001288989.1:c.6808_6810del (PLCE1) | NP_001275918.1:p.Glu2270del | |
| NM_016341.3:c.6856_6858del (PLCE1) | NP_057425.3:p.Glu2286del | |
| XM_006717885.2:c.6898_6900del (PLCE1) | XP_006717948.1:p.Glu2300del | |
| XM_006717886.2:c.6898_6900del (PLCE1) | XP_006717949.1:p.Glu2300del | |
| XM_006717888.2:c.6895_6897del (PLCE1) | XP_006717951.1:p.Glu2299del | |
| XM_006717889.2:c.6850_6852del (PLCE1) | XP_006717952.1:p.Glu2284del | |
| XM_006717890.1:c.5974_5976del (PLCE1) | XP_006717953.1:p.Glu1992del | |
| XM_011539849.1:c.6898_6900del (PLCE1) | XP_011538151.1:p.Glu2300del | |
| XM_011539850.1:c.5743_5745del (PLCE1) | XP_011538152.1:p.Glu1915del | |
| XR_945799.1:n.3310+8366_3310+8368del (NOC3L) | ||
| XM_006717885.4:c.6898_6900del (PLCE1) | XP_006717948.1:p.Glu2300del | |
| XM_006717888.4:c.6895_6897del (PLCE1) | XP_006717951.1:p.Glu2299del | |
| XM_006717889.4:c.6850_6852del (PLCE1) | XP_006717952.1:p.Glu2284del | |
| XM_006717890.3:c.5974_5976del (PLCE1) | XP_006717953.1:p.Glu1992del | |
| XM_011539849.3:c.6898_6900del (PLCE1) | XP_011538151.1:p.Glu2300del | |
| XM_011539850.3:c.5743_5745del (PLCE1) | XP_011538152.1:p.Glu1915del | |
| XM_017016310.2:c.6898_6900del (PLCE1) | XP_016871799.1:p.Glu2300del | |
| XM_017016311.2:c.6898_6900del (PLCE1) | XP_016871800.1:p.Glu2300del | |
| XM_017016312.2:c.5884_5886del (PLCE1) | XP_016871801.1:p.Glu1962del | |
| XR_002957007.1:n.3311+8366_3311+8368del (NOC3L) | ||
| NM_001288989.2:c.6808_6810del (PLCE1) | NP_001275918.1:p.Glu2270del | |
| NM_016341.4:c.6856_6858del (PLCE1) MANE Select | NP_057425.3:p.Glu2286del |