Linked Data
dbSNP Id:
rs1830158362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843392del , CM000671.2:g.134843392del | GRCh38 |
| NC_000009.11:g.137735238del , CM000671.1:g.137735238del | GRCh37 |
| NC_000009.10:g.136875059del | NCBI36 |
| NG_008030.1:g.206587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*1089del | ENSP00000360885.4:n.*1089del | |
| ENST00000371817.8:c.*1089del MANE Select | ENSP00000360882.3:n.*1089del | |
| ENST00000371817.7:c.*1089del | ENSP00000360882.3:n.*1089del | |
| ENST00000618395.4:c.*1089del | ENSP00000481360.1:n.*1089del | |
| NM_000093.4:c.*1089del | NP_000084.3:n.*1089del | |
| NM_001278074.1:c.*1089del | NP_001265003.1:n.*1089del | |
| NR_103451.2:n.71-23183del | ||
| NM_000093.5:c.*1089del MANE Select | NP_000084.3:n.*1089del |