Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401643_94401647del , CM000669.2:g.94401643_94401647del | GRCh38 |
| NC_000007.13:g.94030955_94030959del , CM000669.1:g.94030955_94030959del | GRCh37 |
| NC_000007.12:g.93868891_93868895del | NCBI36 |
| NG_007405.1:g.12083_12087del , LRG_2:g.12083_12087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+23_279+27del MANE Select | ENSP00000297268.6:n.279+23_279+27del | |
| ENST00000297268.10:c.279+23_279+27del | ENSP00000297268.6:n.279+23_279+27del | |
| ENST00000620463.1:c.273+23_273+27del | ENSP00000477719.1:n.273+23_273+27del | |
| NM_000089.3:c.279+23_279+27del , LRG_2t1:c.279+23_279+27del | NP_000080.2:n.279+23_279+27del | |
| NM_000089.4:c.279+23_279+27del MANE Select | NP_000080.2:n.279+23_279+27del |