Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086431del , CM000672.2:g.103086431del | GRCh38 |
| NC_000010.10:g.104846188del , CM000672.1:g.104846188del | GRCh37 |
| NC_000010.9:g.104836178del | NCBI36 |
| NG_042272.1:g.111877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9251del MANE Select | ENSP00000358894.3:n.*9251del | |
| ENST00000369878.8:c.*9251del | ENSP00000358894.3:n.*9251del | |
| XR_001747118.1:n.12132del | ||
| XR_001747121.1:n.12096del | ||
| NM_017649.5:c.*9251del MANE Select | NP_060119.3:n.*9251del | |
| NM_199076.3:c.*9251del | NP_951058.1:n.*9251del |