Linked Data
dbSNP Id:
rs775922374
ExAC:
10:96087731 A / ATCTT
gnomAD v2:
10-96087731-A-ATCTT
gnomAD v3:
10-94327974-A-ATCTT
gnomAD v4:
10-94327974-A-ATCTT
MyVariant Identifiers:
chr10:g.96087731_96087732insTCTT (hg19)
chr10:g.94327974_94327975insTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94327976_94327979dup , CM000672.2:g.94327976_94327979dup | GRCh38 |
| NC_000010.10:g.96087733_96087736dup , CM000672.1:g.96087733_96087736dup | GRCh37 |
| NC_000010.9:g.96077723_96077726dup | NCBI36 |
| NG_015799.1:g.338988_338991dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.8881_8884dup (PLCE1) | ENSP00000360426.1:n.8881_8884dup | |
| ENST00000688810.1:c.5970_5973dup (PLCE1) | ENSP00000509140.1:n.5970_5973dup | |
| ENST00000690340.1:n.4586_4589dup (PLCE1) | ||
| ENST00000692396.1:c.*33_*36dup (PLCE1) | ENSP00000508605.1:n.*33_*36dup | |
| ENST00000371380.8:c.*33_*36dup (PLCE1) MANE Select | ENSP00000360431.2:n.*33_*36dup | |
| ENST00000371385.8:c.*33_*36dup (PLCE1) | ENSP00000360438.4:n.*33_*36dup | |
| ENST00000675218.1:c.6018_6021dup (PLCE1) | ENSP00000501910.1:n.6018_6021dup | |
| ENST00000675487.1:c.*2875_*2878dup (PLCE1) | ENSP00000502340.1:n.*2875_*2878dup | |
| ENST00000260766.7:c.*33_*36dup (PLCE1) | ENSP00000260766.3:n.*33_*36dup | |
| ENST00000371380.7:c.*33_*36dup (PLCE1) | ENSP00000360431.2:n.*33_*36dup | |
| ENST00000371385.7:c.*33_*36dup (PLCE1) | ENSP00000360438.3:n.*33_*36dup | |
| NM_001165979.2:c.*33_*36dup (PLCE1) | NP_001159451.1:n.*33_*36dup | |
| NM_001288989.1:c.*33_*36dup (PLCE1) | NP_001275918.1:n.*33_*36dup | |
| NM_016341.3:c.*33_*36dup (PLCE1) | NP_057425.3:n.*33_*36dup | |
| XM_006717885.2:c.*33_*36dup (PLCE1) | XP_006717948.1:n.*33_*36dup | |
| XM_006717888.2:c.*33_*36dup (PLCE1) | XP_006717951.1:n.*33_*36dup | |
| XM_006717889.2:c.*33_*36dup (PLCE1) | XP_006717952.1:n.*33_*36dup | |
| XM_006717890.1:c.*33_*36dup (PLCE1) | XP_006717953.1:n.*33_*36dup | |
| XM_011539849.1:c.*33_*36dup (PLCE1) | XP_011538151.1:n.*33_*36dup | |
| XM_011539850.1:c.*33_*36dup (PLCE1) | XP_011538152.1:n.*33_*36dup | |
| XR_945799.1:n.3310+5412_3310+5415dup (NOC3L) | ||
| XM_006717885.4:c.*33_*36dup (PLCE1) | XP_006717948.1:n.*33_*36dup | |
| XM_006717888.4:c.*33_*36dup (PLCE1) | XP_006717951.1:n.*33_*36dup | |
| XM_006717889.4:c.*33_*36dup (PLCE1) | XP_006717952.1:n.*33_*36dup | |
| XM_006717890.3:c.*33_*36dup (PLCE1) | XP_006717953.1:n.*33_*36dup | |
| XM_011539849.3:c.*33_*36dup (PLCE1) | XP_011538151.1:n.*33_*36dup | |
| XM_011539850.3:c.*33_*36dup (PLCE1) | XP_011538152.1:n.*33_*36dup | |
| XM_017016310.2:c.*33_*36dup (PLCE1) | XP_016871799.1:n.*33_*36dup | |
| XM_017016312.2:c.*33_*36dup (PLCE1) | XP_016871801.1:n.*33_*36dup | |
| XR_002957007.1:n.3311+5412_3311+5415dup (NOC3L) | ||
| NM_001288989.2:c.*33_*36dup (PLCE1) | NP_001275918.1:n.*33_*36dup | |
| NM_016341.4:c.*33_*36dup (PLCE1) MANE Select | NP_057425.3:n.*33_*36dup |