Linked Data
dbSNP Id:
rs566196098
gnomAD v2:
15-75044312-GC-G
gnomAD v3:
15-74751971-GC-G
gnomAD v4:
15-74751971-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751973del , CM000677.2:g.74751973del | GRCh38 |
| NC_000015.9:g.75044314del , CM000677.1:g.75044314del | GRCh37 |
| NC_000015.8:g.72831367del | NCBI36 |
| NG_008431.1:g.34432del | |
| NG_008431.2:g.34432del | |
| NG_061543.1:g.8129del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1042+119del MANE Select | ENSP00000342007.4:n.1042+119del | |
| ENST00000343932.4:c.1042+119del | ENSP00000342007.4:n.1042+119del | |
| NM_000761.4:c.1042+119del | NP_000752.2:n.1042+119del | |
| NM_000761.5:c.1042+119del MANE Select | NP_000752.2:n.1042+119del |