Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665810_39665812del , CM000679.2:g.39665810_39665812del | GRCh38 |
| NC_000017.10:g.37822063_37822065del , CM000679.1:g.37822063_37822065del | GRCh37 |
| NC_000017.9:g.35075589_35075591del | NCBI36 |
| NG_008892.1:g.5465_5467del , LRG_210:g.5465_5467del | |
| NG_042278.1:g.2830_2832del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.205_207del MANE Select | ENSP00000312624.2:p.Met69del | |
| ENST00000309889.2:c.205_207del | ENSP00000312624.2:p.Met69del | |
| ENST00000578283.1:c.174+31_174+33del | ENSP00000462787.1:n.174+31_174+33del | |
| NM_003673.3:c.205_207del , LRG_210t1:c.205_207del | NP_003664.1:p.Met69del | |
| NM_003673.4:c.205_207del MANE Select | NP_003664.1:p.Met69del |