Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93103948_93103950del , CM000669.2:g.93103948_93103950del | GRCh38 |
| NC_000007.13:g.92733261_92733263del , CM000669.1:g.92733261_92733263del | GRCh37 |
| NC_000007.12:g.92571197_92571199del | NCBI36 |
| NG_023419.1:g.19074_19076del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2148_2150del MANE Select | ENSP00000369292.2:p.Met717del | |
| ENST00000379958.2:c.2148_2150del | ENSP00000369292.2:p.Met717del | |
| ENST00000446617.1:c.2148_2150del | ENSP00000414529.1:p.Met717del | |
| ENST00000620985.4:c.2148_2150del | ENSP00000484636.1:p.Met717del | |
| NM_001193307.1:c.2148_2150del | NP_001180236.1:p.Met717del | |
| NM_017654.3:c.2148_2150del | NP_060124.2:p.Met717del | |
| NM_017654.4:c.2148_2150del MANE Select | NP_060124.2:p.Met717del | |
| NM_001193307.2:c.2148_2150del | NP_001180236.1:p.Met717del |