Linked Data
dbSNP Id:
rs763594244
ExAC:
5:54529094 CG / C
gnomAD v2:
5-54529094-CG-C
gnomAD v4:
5-55233266-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233269del , CM000667.2:g.55233269del | GRCh38 |
| NC_000005.9:g.54529097del , CM000667.1:g.54529097del | GRCh37 |
| NC_000005.8:g.54564854del | NCBI36 |
| NG_034201.1:g.5451del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.257del MANE Select | ENSP00000282572.4:p.Pro86ArgfsTer8 | |
| ENST00000282572.4:c.257del | ENSP00000282572.4:p.Pro86ArgfsTer8 | |
| ENST00000501463.2:c.257del | ENSP00000422485.1:p.Pro86ArgfsTer8 | |
| NM_021147.4:c.257del | NP_066970.3:p.Pro86ArgfsTer8 | |
| NR_125346.1:n.451del | ||
| NR_125347.1:n.451del | ||
| NM_021147.5:c.257del MANE Select | NP_066970.3:p.Pro86ArgfsTer8 | |
| NR_125346.2:n.342del | ||
| NR_125347.2:n.342del |