Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785802_18785813del , CM000681.2:g.18785802_18785813del | GRCh38 |
| NC_000019.9:g.18896612_18896623del , CM000681.1:g.18896612_18896623del | GRCh37 |
| NC_000019.8:g.18757612_18757623del | NCBI36 |
| NG_007070.1:g.10493_10504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1529_1540del MANE Select | ENSP00000222271.2:p.Ala510_Val513del | |
| ENST00000222271.6:c.1529_1540del | ENSP00000222271.2:p.Ala510_Val513del | |
| ENST00000425807.1:c.1370_1381del | ENSP00000403792.1:p.Ala457_Val460del | |
| ENST00000542601.6:c.1430_1441del | ENSP00000439156.2:p.Ala477_Val480del | |
| NM_000095.2:c.1529_1540del | NP_000086.2:p.Ala510_Val513del | |
| NM_000095.3:c.1529_1540del MANE Select | NP_000086.2:p.Ala510_Val513del |