Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911379_173915115del , CM000663.2:g.173911379_173915115del | GRCh38 |
| NC_000001.10:g.173880517_173884253del , CM000663.1:g.173880517_173884253del | GRCh37 |
| NC_000001.9:g.172147140_172150876del | NCBI36 |
| NG_012462.1:g.7264_11000del , LRG_577:g.7264_11000del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.42-196_624+420del | ||
| ENST00000367698.3:c.42-196_624+420del | ||
| ENST00000617423.4:c.42-196_559+485del | ||
| NM_000488.3:c.42-196_624+420del , LRG_577t1:c.42-196_624+420del | ||
| XM_005245198.2:c.-201_480+420del | ||
| NM_001365052.1:c.-201_480+420del | ||
| NM_000488.4:c.42-196_624+420del | ||
| NM_001365052.2:c.-201_480+420del | ||
| NM_001386302.1:c.42-196_624+420del | ||
| NM_001386303.1:c.123-196_705+420del | ||
| NM_001386304.1:c.42-196_624+420del | ||
| NM_001386305.1:c.42-196_624+420del | ||
| NM_001386306.1:c.42-196_409-488del |