Linked Data
gnomAD v4:
5-55232952-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232953del , CM000667.2:g.55232953del | GRCh38 |
| NC_000005.9:g.54528781del , CM000667.1:g.54528781del | GRCh37 |
| NC_000005.8:g.54564538del | NCBI36 |
| NG_034201.1:g.5765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+190del MANE Select | ENSP00000282572.4:n.381+190del | |
| ENST00000282572.4:c.381+190del | ENSP00000282572.4:n.381+190del | |
| ENST00000501463.2:c.*175del | ENSP00000422485.1:n.*175del | |
| NM_021147.4:c.381+190del | NP_066970.3:n.381+190del | |
| NR_125346.1:n.765del | ||
| NR_125347.1:n.580+185del | ||
| NR_125348.1:n.39del | ||
| NM_021147.5:c.381+190del MANE Select | NP_066970.3:n.381+190del | |
| NR_125346.2:n.656del | ||
| NR_125347.2:n.471+185del |