Linked Data
dbSNP Id:
rs755066528
ExAC:
3:58416354 CA / C
gnomAD v2:
3-58416354-CA-C
gnomAD v4:
3-58430627-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430635del , CM000665.2:g.58430635del | GRCh38 |
| NC_000003.11:g.58416362del , CM000665.1:g.58416362del | GRCh37 |
| NC_000003.10:g.58391402del | NCBI36 |
| NG_016860.1:g.8225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.589+29del MANE Select | ENSP00000307241.6:n.589+29del | |
| ENST00000302746.10:c.589+29del | ENSP00000307241.6:n.589+29del | |
| ENST00000383714.8:c.535+29del | ENSP00000373220.4:n.535+29del | |
| ENST00000461692.5:n.702+29del | ||
| ENST00000469364.5:c.589+29del | ENSP00000419580.1:n.589+29del | |
| ENST00000474765.1:c.535+29del | ENSP00000418448.1:n.535+29del | |
| ENST00000479945.1:n.2994+29del | ||
| ENST00000480626.5:n.681+29del | ||
| ENST00000485460.5:c.535+29del | ENSP00000417267.1:n.535+29del | |
| NM_000925.3:c.589+29del | NP_000916.2:n.589+29del | |
| NM_001173468.1:c.535+29del | NP_001166939.1:n.535+29del | |
| NM_001315536.1:c.535+29del | NP_001302465.1:n.535+29del | |
| NR_033384.1:n.702+29del | ||
| NM_000925.4:c.589+29del MANE Select | NP_000916.2:n.589+29del | |
| NM_001173468.2:c.535+29del | NP_001166939.1:n.535+29del | |
| NM_001315536.2:c.535+29del | NP_001302465.1:n.535+29del | |
| NR_033384.2:n.695+29del |