Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675437_52675441del , CM000674.2:g.52675437_52675441del | GRCh38 |
| NC_000012.11:g.53069221_53069225del , CM000674.1:g.53069221_53069225del | GRCh37 |
| NC_000012.10:g.51355488_51355492del | NCBI36 |
| NG_008364.1:g.9967_9971del | |
| NG_008364.2:g.9967_9971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1687_1691del MANE Select | ENSP00000252244.3:p.Gly563GlnfsTer? | |
| NM_006121.3:c.1687_1691del | NP_006112.3:p.Gly563GlnfsTer? | |
| NM_006121.4:c.1687_1691del MANE Select | NP_006112.3:p.Gly563GlnfsTer? |