Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136199660_136199682del , CM000671.2:g.136199660_136199682del | GRCh38 |
| NC_000009.11:g.139091506_139091528del , CM000671.1:g.139091506_139091528del | GRCh37 |
| NC_000009.10:g.138231327_138231349del | NCBI36 |
| NG_008097.1:g.10430_10452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.467_469+20del | ||
| ENST00000371748.10:c.452_454+20del | ||
| ENST00000645419.1:n.1277_1279+20del | ||
| ENST00000371746.7:c.467_469+20del | ||
| ENST00000371748.9:c.452_454+20del | ||
| ENST00000619587.1:c.419_421+20del | ||
| NM_014564.3:c.467_469+20del | ||
| NM_178138.4:c.452_454+20del | ||
| XM_005263410.1:c.419_421+20del | ||
| NM_001363746.1:c.419_421+20del | ||
| NM_014564.4:c.467_469+20del | ||
| NM_178138.5:c.452_454+20del | ||
| XM_017015168.1:c.380_382+20del | ||
| NM_178138.6:c.452_454+20del | ||
| NM_014564.5:c.467_469+20del |