Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978447del , CM000667.2:g.149978447del | GRCh38 |
| NC_000005.9:g.149358010del , CM000667.1:g.149358010del | GRCh37 |
| NC_000005.8:g.149338203del | NCBI36 |
| NG_007147.2:g.19565del , LRG_684:g.19565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.1027del | ||
| ENST00000286298.5:c.699+96del MANE Select | ENSP00000286298.4:n.699+96del | |
| ENST00000286298.4:c.699+96del | ENSP00000286298.4:n.699+96del | |
| ENST00000503336.1:c.372+96del | ENSP00000426053.1:n.372+96del | |
| NM_000112.3:c.699+96del , LRG_684t1:c.699+96del | NP_000103.2:n.699+96del | |
| XM_017009191.2:c.699+96del | XP_016864680.1:n.699+96del | |
| NM_000112.4:c.699+96del MANE Select | NP_000103.2:n.699+96del |