Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859636del , CM000668.2:g.31859636del | GRCh38 |
| NC_000006.11:g.31827413del , CM000668.1:g.31827413del | GRCh37 |
| NC_000006.10:g.31935392del | NCBI36 |
| NG_008201.1:g.8298del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*84del MANE Select | ENSP00000364782.4:n.*84del | |
| ENST00000677054.1:n.2671del | ||
| ENST00000677512.1:n.1609del | ||
| ENST00000678869.1:n.1920del | ||
| ENST00000375631.4:c.*84del | ENSP00000364782.4:n.*84del | |
| ENST00000480384.1:n.1631del | ||
| ENST00000491768.5:c.*442del | ENSP00000433127.1:n.*442del | |
| ENST00000495807.1:n.2640del | ||
| NM_000434.3:c.*84del | NP_000425.1:n.*84del | |
| NM_000434.4:c.*84del MANE Select | NP_000425.1:n.*84del |