Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151101043_151101078del , CM000667.2:g.151101043_151101078del | GRCh38 |
| NC_000005.9:g.150480604_150480639del , CM000667.1:g.150480604_150480639del | GRCh37 |
| NC_000005.8:g.150460797_150460832del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354546.10:c.*375_*410del MANE Select | ENSP00000346550.5:n.*375_*410del | |
| ENST00000522664.5:c.201-111_201-76del | ||
| NM_001155.4:c.*375_*410del | NP_001146.2:n.*375_*410del | |
| NM_001193544.1:c.*375_*410del | NP_001180473.1:n.*375_*410del | |
| NM_001363114.1:c.*375_*410del | NP_001350043.1:n.*375_*410del | |
| NM_001155.5:c.*375_*410del MANE Select | NP_001146.2:n.*375_*410del | |
| NM_001193544.2:c.*375_*410del | NP_001180473.1:n.*375_*410del | |
| NM_001363114.2:c.*375_*410del | NP_001350043.1:n.*375_*410del |