Linked Data
gnomAD v4:
5-55233002-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233003del , CM000667.2:g.55233003del | GRCh38 |
| NC_000005.9:g.54528831del , CM000667.1:g.54528831del | GRCh37 |
| NC_000005.8:g.54564588del | NCBI36 |
| NG_034201.1:g.5715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+140del MANE Select | ENSP00000282572.4:n.381+140del | |
| ENST00000282572.4:c.381+140del | ENSP00000282572.4:n.381+140del | |
| ENST00000501463.2:c.*125del | ENSP00000422485.1:n.*125del | |
| NM_021147.4:c.381+140del | NP_066970.3:n.381+140del | |
| NR_125346.1:n.715del | ||
| NR_125347.1:n.580+135del | ||
| NM_021147.5:c.381+140del MANE Select | NP_066970.3:n.381+140del | |
| NR_125346.2:n.606del | ||
| NR_125347.2:n.471+135del |