Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404861del , CM000669.2:g.94404861del | GRCh38 |
| NC_000007.13:g.94034173del , CM000669.1:g.94034173del | GRCh37 |
| NC_000007.12:g.93872109del | NCBI36 |
| NG_007405.1:g.15301del , LRG_2:g.15301del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.401del MANE Select | NP_000080.2:p.Pro134GlnfsTer? |
| ENST00000297268.11:c.401del MANE Select | ENSP00000297268.6:p.Pro134GlnfsTer? |
| NM_000089.3:c.401del , LRG_2t1:c.401del | NP_000080.2:p.Pro134GlnfsTer? |
| ENST00000297268.10:c.401del | ENSP00000297268.6:p.Pro134GlnfsTer? |
| ENST00000620463.1:c.395del | ENSP00000477719.1:p.Pro132GlnfsTer? |