Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147121075del , CM000669.2:g.147121075del | GRCh38 |
| NC_000007.13:g.146818167del , CM000669.1:g.146818167del | GRCh37 |
| NC_000007.12:g.146449100del | NCBI36 |
| NG_007092.2:g.1009715del | |
| NG_007092.3:g.1010075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.851del MANE Select | ENSP00000354778.3:p.Gln284ArgfsTer? | |
| ENST00000636561.1:n.754del | ||
| ENST00000636870.1:n.713del | ||
| ENST00000637150.1:n.780del | ||
| ENST00000637555.1:n.509del | ||
| ENST00000637694.1:n.754del | ||
| ENST00000637825.1:n.334del | ||
| ENST00000638117.1:n.754del | ||
| ENST00000361727.7:c.851del | ENSP00000354778.3:p.Gln284ArgfsTer? | |
| NM_014141.5:c.851del | NP_054860.1:p.Gln284ArgfsTer? | |
| XM_017011950.2:c.851del | XP_016867439.1:p.Gln284ArgfsTer? | |
| NM_014141.6:c.851del MANE Select | NP_054860.1:p.Gln284ArgfsTer? |