Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717747_2717750del , CM000671.2:g.2717747_2717750del | GRCh38 |
| NC_000009.11:g.2717747_2717750del , CM000671.1:g.2717747_2717750del | GRCh37 |
| NC_000009.10:g.2707747_2707750del | NCBI36 |
| NG_012181.1:g.5222_5225del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.8_11del MANE Select | NP_598004.1:p.Lys3ArgfsTer? |
| ENST00000382082.4:c.8_11del MANE Select | ENSP00000371514.3:p.Lys3ArgfsTer? |
| NM_133497.3:c.8_11del | NP_598004.1:p.Lys3ArgfsTer? |
| ENST00000382082.3:c.8_11del | ENSP00000371514.3:p.Lys3ArgfsTer? |
| XR_929202.1:n.509_512del | |
| XR_929203.1:n.509_512del |