Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719411_92719413del , CM000671.2:g.92719411_92719413del | GRCh38 |
| NC_000009.11:g.95481693_95481695del , CM000671.1:g.95481693_95481695del | GRCh37 |
| NC_000009.10:g.94521514_94521516del | NCBI36 |
| NG_033908.1:g.50391_50393del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1234_1236del MANE Select | ENSP00000349351.6:p.Asn412del | |
| ENST00000356884.10:c.1234_1236del | ENSP00000349351.6:p.Asn412del | |
| ENST00000375512.3:c.1234_1236del | ENSP00000364662.3:p.Asn412del | |
| NM_001003800.1:c.1234_1236del | NP_001003800.1:p.Asn412del | |
| NM_015250.3:c.1234_1236del | NP_056065.1:p.Asn412del | |
| XM_017014551.1:c.1315_1317del | XP_016870040.1:p.Asn439del | |
| NM_001003800.2:c.1234_1236del MANE Select | NP_001003800.1:p.Asn412del | |
| NM_015250.4:c.1234_1236del | NP_056065.1:p.Asn412del |