Linked Data
dbSNP Id:
rs1753473719
gnomAD v3:
5-148994598-AGATGGTTGGT-A
gnomAD v4:
5-148994598-AGATGGTTGGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994599_148994608del , CM000667.2:g.148994599_148994608del | GRCh38 |
| NC_000005.9:g.148374162_148374171del , CM000667.1:g.148374162_148374171del | GRCh37 |
| NC_000005.8:g.148354355_148354364del | NCBI36 |
| NG_007947.2:g.73567_73576del , LRG_269:g.73567_73576del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10103_*10112del MANE Select | ENSP00000423660.1:n.*10103_*10112del | |
| ENST00000504690.5:c.*12+9118_*12+9127del | ENSP00000425627.1:n.*12+9118_*12+9127del | |
| ENST00000510350.1:n.231+12273_231+12282del | ||
| NM_024577.3:c.*10103_*10112del , LRG_269t1:c.*10103_*10112del | NP_078853.2:n.*10103_*10112del | |
| NM_024577.4:c.*10103_*10112del MANE Select | NP_078853.2:n.*10103_*10112del |