Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583542_41583545del , CM000679.2:g.41583542_41583545del | GRCh38 |
| NC_000017.10:g.39739794_39739797del , CM000679.1:g.39739794_39739797del | GRCh37 |
| NC_000017.9:g.36993320_36993323del | NCBI36 |
| NG_008624.1:g.8351_8354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1053+6_1053+9del MANE Select | ENSP00000167586.6:n.1053+6_1053+9del | |
| ENST00000167586.6:c.1053+6_1053+9del | ENSP00000167586.6:n.1053+6_1053+9del | |
| ENST00000476662.1:n.503+6_503+9del | ||
| NM_000526.4:c.1053+6_1053+9del | NP_000517.2:n.1053+6_1053+9del | |
| NM_000526.5:c.1053+6_1053+9del MANE Select | NP_000517.3:n.1053+6_1053+9del |