Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985483_99985494del , CM000675.2:g.99985483_99985494del | GRCh38 |
| NC_000013.10:g.100637737_100637748del , CM000675.1:g.100637737_100637748del | GRCh37 |
| NC_000013.9:g.99435738_99435749del | NCBI36 |
| NG_007085.2:g.8419_8430del | |
| NG_007085.3:g.8728_8739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1400_1411del MANE Select | ENSP00000365514.3:p.Ala467_Ala470del | |
| ENST00000376335.7:c.1400_1411del | ENSP00000365514.3:p.Ala467_Ala470del | |
| ENST00000620342.1:c.1397_1408del | ENSP00000481510.1:p.Ala466_Ala469del | |
| NM_007129.3:c.1400_1411del | NP_009060.2:p.Ala467_Ala470del | |
| NM_007129.4:c.1400_1411del | NP_009060.2:p.Ala467_Ala470del | |
| NM_007129.5:c.1400_1411del MANE Select | NP_009060.2:p.Ala467_Ala470del |