Linked Data
gnomAD v4:
21-44288521-ACCACGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288524_44288529del , CM000683.2:g.44288524_44288529del | GRCh38 |
| NC_000021.8:g.45708407_45708412del , CM000683.1:g.45708407_45708412del | GRCh37 |
| NC_000021.7:g.44532835_44532840del | NCBI36 |
| NG_009556.1:g.7645_7650del , LRG_18:g.7645_7650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+66_652+71del MANE Select | ENSP00000291582.5:n.652+66_652+71del | |
| ENST00000291582.5:c.652+66_652+71del | ENSP00000291582.5:n.652+66_652+71del | |
| ENST00000527919.5:n.1196+66_1196+71del | ||
| ENST00000530812.5:n.1270_1275del | ||
| NM_000383.3:c.652+66_652+71del | NP_000374.1:n.652+66_652+71del | |
| XM_011529551.1:c.652+66_652+71del | XP_011527853.1:n.652+66_652+71del | |
| NM_000383.4:c.652+66_652+71del MANE Select | NP_000374.1:n.652+66_652+71del |