Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31660071_31660174del , CM000683.2:g.31660071_31660174del | GRCh38 |
| NC_000021.8:g.33032384_33032487del , CM000683.1:g.33032384_33032487del | GRCh37 |
| NC_000021.7:g.31954255_31954358del | NCBI36 |
| NG_008689.1:g.5450_5553del , LRG_652:g.5450_5553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+230_72+333del MANE Select | ENSP00000270142.7:n.72+230_72+333del | |
| ENST00000270142.10:c.72+230_72+333del | ENSP00000270142.6:n.72+230_72+333del | |
| ENST00000389995.4:c.15+287_15+390del | ENSP00000374645.4:n.15+287_15+390del | |
| ENST00000470944.1:n.363_466del | ||
| ENST00000476106.5:n.149+230_149+333del | ||
| NM_000454.4:c.72+230_72+333del , LRG_652t1:c.72+230_72+333del | NP_000445.1:n.72+230_72+333del | |
| NM_000454.5:c.72+230_72+333del MANE Select | NP_000445.1:n.72+230_72+333del |