dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290887_24290889del , CM000668.2:g.24290887_24290889del | GRCh38 |
| NC_000006.11:g.24291115_24291117del , CM000668.1:g.24291115_24291117del | GRCh37 |
| NC_000006.10:g.24399094_24399096del | NCBI36 |
| NG_012829.1:g.72164_72166del | |
| NG_012829.2:g.97404_97406del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+43_704+45del MANE Select | ENSP00000367715.3:n.704+43_704+45del | |
| ENST00000378454.7:c.704+43_704+45del | ENSP00000367715.3:n.704+43_704+45del | |
| NM_001195610.1:c.704+43_704+45del | NP_001182539.1:n.704+43_704+45del | |
| NM_016356.4:c.704+43_704+45del | NP_057440.2:n.704+43_704+45del | |
| NM_016356.5:c.704+43_704+45del MANE Select | NP_057440.2:n.704+43_704+45del | |
| NM_001195610.2:c.704+43_704+45del | NP_001182539.1:n.704+43_704+45del |