Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414375_119414384del , CM000665.2:g.119414375_119414384del | GRCh38 |
| NC_000003.11:g.119133222_119133231del , CM000665.1:g.119133222_119133231del | GRCh37 |
| NC_000003.10:g.120615912_120615921del | NCBI36 |
| NG_007665.2:g.125003_125012del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2446_2455del MANE Select | ENSP00000264245.4:p.Asp816Ter | |
| ENST00000264245.8:c.2446_2455del | ENSP00000264245.4:p.Asp816Ter | |
| NM_020754.3:c.2446_2455del | NP_065805.2:p.Asp816Ter | |
| XM_005247671.3:c.2353_2362del | XP_005247728.1:p.Asp785Ter | |
| XM_006713714.2:c.2386_2395del | XP_006713777.1:p.Asp796Ter | |
| XM_006713714.3:c.2386_2395del | XP_006713777.1:p.Asp796Ter | |
| XM_017006955.1:c.1954_1963del | XP_016862444.1:p.Asp652Ter | |
| NM_020754.4:c.2446_2455del MANE Select | NP_065805.2:p.Asp816Ter |