Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401754_94401755del , CM000669.2:g.94401754_94401755del | GRCh38 |
| NC_000007.13:g.94031066_94031067del , CM000669.1:g.94031066_94031067del | GRCh37 |
| NC_000007.12:g.93869002_93869003del | NCBI36 |
| NG_007405.1:g.12194_12195del , LRG_2:g.12194_12195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+134_279+135del MANE Select | ENSP00000297268.6:n.279+134_279+135del | |
| ENST00000297268.10:c.279+134_279+135del | ENSP00000297268.6:n.279+134_279+135del | |
| ENST00000620463.1:c.273+134_273+135del | ENSP00000477719.1:n.273+134_273+135del | |
| NM_000089.3:c.279+134_279+135del , LRG_2t1:c.279+134_279+135del | NP_000080.2:n.279+134_279+135del | |
| NM_000089.4:c.279+134_279+135del MANE Select | NP_000080.2:n.279+134_279+135del |