Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48475871_48476863del , CM000675.2:g.48475871_48476863del | GRCh38 |
| NC_000013.10:g.49050007_49050999del , CM000675.1:g.49050007_49050999del | GRCh37 |
| NC_000013.9:g.47948008_47949000del | NCBI36 |
| NG_009009.1:g.177125_178117del , LRG_517:g.177125_178117del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2521-830_2663+20del | ||
| ENST00000643064.1:c.194+94428_194+95420del | ||
| ENST00000650461.1:c.2521-830_2663+20del | ||
| ENST00000267163.4:c.2521-830_2663+20del | ||
| NM_000321.2:c.2521-830_2663+20del , LRG_517t1:c.2521-830_2663+20del | ||
| XM_011535171.1:c.2260-830_2402+20del | ||
| XM_011535171.2:c.2260-830_2402+20del | ||
| NM_000321.3:c.2521-830_2663+20del |