Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786140_18786145del , CM000681.2:g.18786140_18786145del | GRCh38 |
| NC_000019.9:g.18896950_18896955del , CM000681.1:g.18896950_18896955del | GRCh37 |
| NC_000019.8:g.18757950_18757955del | NCBI36 |
| NG_007070.1:g.10162_10167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1311_1316del MANE Select | ENSP00000222271.2:p.Gly438_Asp439del | |
| ENST00000222271.6:c.1311_1316del | ENSP00000222271.2:p.Gly438_Asp439del | |
| ENST00000425807.1:c.1152_1157del | ENSP00000403792.1:p.Gly385_Asp386del | |
| ENST00000542601.6:c.1212_1217del | ENSP00000439156.2:p.Gly405_Asp406del | |
| ENST00000612179.1:n.561_566del | ||
| NM_000095.2:c.1311_1316del | NP_000086.2:p.Gly438_Asp439del | |
| NM_000095.3:c.1311_1316del MANE Select | NP_000086.2:p.Gly438_Asp439del |