Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904711_154904712del , CM000685.2:g.154904711_154904712del | GRCh38 |
| NC_000023.10:g.154132986_154132987del , CM000685.1:g.154132986_154132987del | GRCh37 |
| NC_000023.9:g.153786180_153786181del | NCBI36 |
| NG_011403.1:g.123013_123014del | |
| NG_011403.2:g.123013_123014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5586+100_5586+101del MANE Select | ENSP00000353393.4:n.5586+100_5586+101del | |
| ENST00000360256.8:c.5586+100_5586+101del | ENSP00000353393.4:n.5586+100_5586+101del | |
| NM_000132.3:c.5586+100_5586+101del | NP_000123.1:n.5586+100_5586+101del | |
| XM_011531126.1:c.5481+100_5481+101del | XP_011529428.1:n.5481+100_5481+101del | |
| NM_000132.4:c.5586+100_5586+101del MANE Select | NP_000123.1:n.5586+100_5586+101del |