Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6062091_6062094del , CM000672.2:g.6062091_6062094del | GRCh38 |
| NC_000010.10:g.6104054_6104057del , CM000672.1:g.6104054_6104057del | GRCh37 |
| NC_000010.9:g.6144060_6144063del | NCBI36 |
| NG_007403.1:g.5220_5223del , LRG_73:g.5220_5223del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.62_64+1del | ||
| ENST00000697424.1:c.62_64+1del | ||
| ENST00000379959.8:c.62_64+1del | ||
| ENST00000644262.1:n.279+2_279+5del | ||
| ENST00000256876.10:c.62_64+1del | ||
| ENST00000379954.5:c.62_64+1del | ||
| ENST00000379959.7:c.62_64+1del | ||
| NM_000417.2:c.62_64+1del , LRG_73t1:c.62_64+1del | ||
| NM_001308242.1:c.62_64+1del | ||
| NM_001308243.1:c.62_64+1del | ||
| NM_000417.3:c.62_64+1del | ||
| NM_001308242.2:c.62_64+1del | ||
| NM_001308243.2:c.62_64+1del |