Linked Data
gnomAD v4:
5-55233276-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233281del , CM000667.2:g.55233281del | GRCh38 |
| NC_000005.9:g.54529109del , CM000667.1:g.54529109del | GRCh37 |
| NC_000005.8:g.54564866del | NCBI36 |
| NG_034201.1:g.5441del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.247del MANE Select | ENSP00000282572.4:p.Leu83CysfsTer11 | |
| ENST00000282572.4:c.247del | ENSP00000282572.4:p.Leu83CysfsTer11 | |
| ENST00000501463.2:c.247del | ENSP00000422485.1:p.Leu83CysfsTer11 | |
| NM_021147.4:c.247del | NP_066970.3:p.Leu83CysfsTer11 | |
| NR_125346.1:n.441del | ||
| NR_125347.1:n.441del | ||
| NM_021147.5:c.247del MANE Select | NP_066970.3:p.Leu83CysfsTer11 | |
| NR_125346.2:n.332del | ||
| NR_125347.2:n.332del |