Linked Data
gnomAD v4:
21-44456693-CGGGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456694_44456698del , CM000683.2:g.44456694_44456698del | GRCh38 |
| NC_000021.8:g.45876577_45876581del , CM000683.1:g.45876577_45876581del | GRCh37 |
| NC_000021.7:g.44701005_44701009del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.50_54del MANE Select | ENSP00000291592.4:p.Arg17LeufsTer23 | |
| ENST00000291592.5:c.50_54del | ENSP00000291592.4:p.Arg17LeufsTer23 | |
| NM_030891.4:c.50_54del | NP_112153.1:p.Arg17LeufsTer23 | |
| NM_030891.5:c.50_54del | NP_112153.1:p.Arg17LeufsTer23 | |
| NM_030891.6:c.50_54del MANE Select | NP_112153.1:p.Arg17LeufsTer23 |