Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94398645del , CM000669.2:g.94398645del | GRCh38 |
| NC_000007.13:g.94027957del , CM000669.1:g.94027957del | GRCh37 |
| NC_000007.12:g.93865893del | NCBI36 |
| NG_007405.1:g.9085del , LRG_2:g.9085del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.96+249del MANE Select | NP_000080.2:n.96+249del |
| ENST00000297268.11:c.96+249del MANE Select | ENSP00000297268.6:n.96+249del |
| NM_000089.3:c.96+249del , LRG_2t1:c.96+249del | NP_000080.2:n.96+249del |
| ENST00000297268.10:c.96+249del | ENSP00000297268.6:n.96+249del |
| ENST00000620463.1:c.90+249del | ENSP00000477719.1:n.90+249del |