Linked Data
dbSNP Id:
rs760741490
ExAC:
10:50732341 CCT / C
gnomAD v2:
10-50732341-CCT-C
gnomAD v4:
10-49524295-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524298_49524299del , CM000672.2:g.49524298_49524299del | GRCh38 |
| NC_000010.10:g.50732344_50732345del , CM000672.1:g.50732344_50732345del | GRCh37 |
| NC_000010.9:g.50402350_50402351del | NCBI36 |
| NG_009442.1:g.19805_19806del , LRG_465:g.19805_19806del | |
| NG_033155.1:g.4985_4986del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1133_1134del MANE Select | ENSP00000348089.5:p.Glu378GlyfsTer8 | |
| ENST00000447839.7:c.1133_1134del MANE Plus Clinical | ENSP00000387966.2:p.Glu378GlyfsTer8 | |
| ENST00000679596.1:c.*762_*763del | ENSP00000504862.1:n.*762_*763del | |
| ENST00000679811.1:n.1216_1217del | ||
| ENST00000680107.1:c.652+4120_652+4121del | ENSP00000505909.1:n.652+4120_652+4121del | |
| ENST00000680233.1:n.1226_1227del | ||
| ENST00000681632.1:n.1211_1212del | ||
| ENST00000681659.1:c.1133_1134del | ENSP00000505631.1:p.Glu378GlyfsTer8 | |
| ENST00000355832.9:c.1133_1134del | ENSP00000348089.5:p.Glu378GlyfsTer8 | |
| ENST00000447839.6:c.1133_1134del | ENSP00000387966.2:p.Glu378GlyfsTer8 | |
| ENST00000515869.1:c.1133_1134del | ENSP00000423550.1:p.Glu378GlyfsTer8 | |
| NM_000124.3:c.1133_1134del | NP_000115.1:p.Glu378GlyfsTer8 | |
| NM_001277058.1:c.1133_1134del | NP_001263987.1:p.Glu378GlyfsTer8 | |
| NM_001277059.1:c.1133_1134del | NP_001263988.1:p.Glu378GlyfsTer8 | |
| NM_001346440.1:c.1133_1134del | NP_001333369.1:p.Glu378GlyfsTer8 | |
| NM_000124.4:c.1133_1134del MANE Select | NP_000115.1:p.Glu378GlyfsTer8 | |
| NM_001277058.2:c.1133_1134del MANE Plus Clinical | NP_001263987.1:p.Glu378GlyfsTer8 | |
| NM_001277059.2:c.1133_1134del | NP_001263988.1:p.Glu378GlyfsTer8 | |
| NM_001346440.2:c.1133_1134del | NP_001333369.1:p.Glu378GlyfsTer8 |