Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243725_72243772del , CM000673.2:g.72243725_72243772del | GRCh38 |
| NC_000011.9:g.71954769_71954816del , CM000673.1:g.71954769_71954816del | GRCh37 |
| NC_000011.8:g.71632417_71632464del | NCBI36 |
| NG_008169.1:g.5405_5452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+16_217+63del MANE Select | ENSP00000298231.5:n.217+16_217+63del | |
| ENST00000544057.1:n.85+1808_85+1855del | ||
| NM_005169.3:c.217+16_217+63del | NP_005160.2:n.217+16_217+63del | |
| NM_005169.4:c.217+16_217+63del MANE Select | NP_005160.2:n.217+16_217+63del |