Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767382_28767432del , CM000676.2:g.28767382_28767432del | GRCh38 |
| NC_000014.8:g.29236588_29236638del , CM000676.1:g.29236588_29236638del | GRCh37 |
| NC_000014.7:g.28306339_28306389del | NCBI36 |
| NG_009367.1:g.5302_5352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.103_153del | ENSP00000516406.1:p.Ala35_His51del | |
| ENST00000313071.7:c.103_153del MANE Select | ENSP00000339004.3:p.Ala35_His51del | |
| ENST00000313071.6:c.103_153del | ENSP00000339004.3:p.Ala35_His51del | |
| NM_005249.4:c.103_153del | NP_005240.3:p.Ala35_His51del | |
| NM_005249.5:c.103_153del MANE Select | NP_005240.3:p.Ala35_His51del |