Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721832_42721834del , CM000668.2:g.42721832_42721834del | GRCh38 |
| NC_000006.11:g.42689570_42689572del , CM000668.1:g.42689570_42689572del | GRCh37 |
| NC_000006.10:g.42797548_42797550del | NCBI36 |
| NG_009176.1:g.5791_5793del | |
| NG_009176.2:g.5791_5793del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.505_507del MANE Select | ENSP00000230381.5:p.Asn169del | |
| ENST00000230381.6:c.505_507del | ENSP00000230381.5:p.Asn169del | |
| NM_000322.4:c.505_507del | NP_000313.2:p.Asn169del | |
| XR_427834.2:n.1160_1162del | ||
| XR_926295.1:n.1160_1162del | ||
| XR_427834.4:n.1210_1212del | ||
| XR_926295.3:n.1210_1212del | ||
| NM_000322.5:c.505_507del MANE Select | NP_000313.2:p.Asn169del |