Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42704536_42704538del , CM000668.2:g.42704536_42704538del | GRCh38 |
| NC_000006.11:g.42672274_42672276del , CM000668.1:g.42672274_42672276del | GRCh37 |
| NC_000006.10:g.42780252_42780254del | NCBI36 |
| NG_009176.1:g.23084_23086del | |
| NG_009176.2:g.23084_23086del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230381.7:c.656_658del MANE Select | ENSP00000230381.5:p.Pro219del | |
| ENST00000230381.6:c.656_658del | ENSP00000230381.5:p.Pro219del | |
| NM_000322.4:c.656_658del | NP_000313.2:p.Pro219del | |
| XR_427834.2:n.1311_1313del | ||
| XR_926295.1:n.1493_1495del | ||
| XR_427834.4:n.1361_1363del | ||
| XR_926295.3:n.1543_1545del | ||
| NM_000322.5:c.656_658del MANE Select | NP_000313.2:p.Pro219del |