Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612651del , CM000679.2:g.41612651del | GRCh38 |
| NC_000017.10:g.39768903del , CM000679.1:g.39768903del | GRCh37 |
| NC_000017.9:g.37022429del | NCBI36 |
| NG_008301.1:g.5178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.39del MANE Select | ENSP00000301653.3:p.Met14Ter | |
| ENST00000301653.8:c.39del | ENSP00000301653.3:p.Met14Ter | |
| ENST00000588319.1:n.116del | ||
| ENST00000590990.1:c.39del | ENSP00000467105.1:p.Met14Ter | |
| ENST00000593067.1:c.-313+140del | ENSP00000467124.1:n.-313+140del | |
| NM_005557.3:c.39del | NP_005548.2:p.Met14Ter | |
| NM_005557.4:c.39del MANE Select | NP_005548.2:p.Met14Ter |