Linked Data
dbSNP Id:
rs1491275132
ExAC:
19:49477972 CAG / C
gnomAD v2:
19-49477972-CAG-C
gnomAD v3:
19-48974715-CAG-C
gnomAD v4:
19-48974715-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974716_48974717del , CM000681.2:g.48974716_48974717del | GRCh38 |
| NC_000019.9:g.49477973_49477974del , CM000681.1:g.49477973_49477974del | GRCh37 |
| NC_000019.8:g.54169785_54169786del | NCBI36 |
| NG_012923.1:g.23637_23638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1325_1326del MANE Select | ENSP00000317904.3:p.Pro442ArgfsTer9 | |
| ENST00000263276.6:c.1133_1134del | ENSP00000263276.6:p.Pro378ArgfsTer9 | |
| ENST00000323798.7:c.1325_1326del | ENSP00000317904.3:p.Pro442ArgfsTer9 | |
| ENST00000472004.5:n.80_81del | ||
| ENST00000496048.1:n.232_233del | ||
| NM_001161587.1:c.1133_1134del | NP_001155059.1:p.Pro378ArgfsTer9 | |
| NM_002103.4:c.1325_1326del | NP_002094.2:p.Pro442ArgfsTer9 | |
| NR_027763.1:n.1384_1385del | ||
| NM_002103.5:c.1325_1326del MANE Select | NP_002094.2:p.Pro442ArgfsTer9 | |
| NM_001161587.2:c.1133_1134del | NP_001155059.1:p.Pro378ArgfsTer9 | |
| NR_027763.2:n.1340_1341del |