ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154974778del , CM000663.2:g.154974778del | GRCh38 |
| NC_000001.10:g.154947254del , CM000663.1:g.154947254del | GRCh37 |
| NC_000001.9:g.153213878del | NCBI36 |
| NG_029028.1:g.4708del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308987.6:c.33del MANE Select | ENSP00000311083.5:p.Lys11AsnfsTer18 | |
| ENST00000308987.5:c.33del | ENSP00000311083.5:p.Lys11AsnfsTer18 | |
| ENST00000368436.1:c.33del | ENSP00000357421.1:p.Lys11AsnfsTer18 | |
| ENST00000368439.5:c.-124del | ENSP00000357424.1:n.-124del | |
| NM_001826.2:c.33del | NP_001817.1:p.Lys11AsnfsTer18 | |
| NR_024163.1:n.137del | ||
| NM_001826.3:c.33del MANE Select | NP_001817.1:p.Lys11AsnfsTer18 | |
| NR_024163.2:n.98del |