Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274960_2274961del , CM000681.2:g.2274960_2274961del | GRCh38 |
| NC_000019.9:g.2274959_2274960del , CM000681.1:g.2274959_2274960del | GRCh37 |
| NC_000019.8:g.2225959_2225960del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*720_*721del MANE Select | ENSP00000345102.3:n.*720_*721del | |
| ENST00000342063.4:c.*720_*721del | ENSP00000345102.3:n.*720_*721del | |
| ENST00000621615.1:c.146+5216_146+5217del | ENSP00000481965.1:n.146+5216_146+5217del | |
| NM_198532.2:c.*720_*721del | NP_940934.1:n.*720_*721del | |
| NM_198532.3:c.*720_*721del MANE Select | NP_940934.1:n.*720_*721del |