Linked Data
dbSNP Id:
rs759698849
ExAC:
10:50732362 ACT / A
gnomAD v2:
10-50732362-ACT-A
gnomAD v4:
10-49524316-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524319_49524320del , CM000672.2:g.49524319_49524320del | GRCh38 |
| NC_000010.10:g.50732365_50732366del , CM000672.1:g.50732365_50732366del | GRCh37 |
| NC_000010.9:g.50402371_50402372del | NCBI36 |
| NG_009442.1:g.19784_19785del , LRG_465:g.19784_19785del | |
| NG_033155.1:g.4964_4965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1112_1113del MANE Select | ENSP00000348089.5:p.Glu371ValfsTer2 | |
| ENST00000447839.7:c.1112_1113del MANE Plus Clinical | ENSP00000387966.2:p.Glu371ValfsTer2 | |
| ENST00000679596.1:c.*741_*742del | ENSP00000504862.1:n.*741_*742del | |
| ENST00000679811.1:n.1195_1196del | ||
| ENST00000680107.1:c.652+4099_652+4100del | ENSP00000505909.1:n.652+4099_652+4100del | |
| ENST00000680233.1:n.1205_1206del | ||
| ENST00000681632.1:n.1190_1191del | ||
| ENST00000681659.1:c.1112_1113del | ENSP00000505631.1:p.Glu371ValfsTer2 | |
| ENST00000355832.9:c.1112_1113del | ENSP00000348089.5:p.Glu371ValfsTer2 | |
| ENST00000447839.6:c.1112_1113del | ENSP00000387966.2:p.Glu371ValfsTer2 | |
| ENST00000515869.1:c.1112_1113del | ENSP00000423550.1:p.Glu371ValfsTer2 | |
| NM_000124.3:c.1112_1113del | NP_000115.1:p.Glu371ValfsTer2 | |
| NM_001277058.1:c.1112_1113del | NP_001263987.1:p.Glu371ValfsTer2 | |
| NM_001277059.1:c.1112_1113del | NP_001263988.1:p.Glu371ValfsTer2 | |
| NM_001346440.1:c.1112_1113del | NP_001333369.1:p.Glu371ValfsTer2 | |
| NM_000124.4:c.1112_1113del MANE Select | NP_000115.1:p.Glu371ValfsTer2 | |
| NM_001277058.2:c.1112_1113del MANE Plus Clinical | NP_001263987.1:p.Glu371ValfsTer2 | |
| NM_001277059.2:c.1112_1113del | NP_001263988.1:p.Glu371ValfsTer2 | |
| NM_001346440.2:c.1112_1113del | NP_001333369.1:p.Glu371ValfsTer2 |