Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615977_615988del , CM000681.2:g.615977_615988del | GRCh38 |
| NC_000019.9:g.615977_615988del , CM000681.1:g.615977_615988del | GRCh37 |
| NC_000019.8:g.566977_566988del | NCBI36 |
| NG_023049.1:g.22583_22594del | |
| NG_052810.1:g.31085_31096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2173_2184del MANE Select | ENSP00000251287.1:p.Ser725_Ala728del | |
| ENST00000251287.2:c.2173_2184del | ENSP00000251287.1:p.Ser725_Ala728del | |
| NM_001194.3:c.2173_2184del | NP_001185.3:p.Ser725_Ala728del | |
| NM_001194.4:c.2173_2184del MANE Select | NP_001185.3:p.Ser725_Ala728del |