Linked Data
dbSNP Id:
rs1322018890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780831del , CM000672.2:g.94780831del | GRCh38 |
| NC_000010.10:g.96540588del , CM000672.1:g.96540588del | GRCh37 |
| NC_000010.9:g.96530578del | NCBI36 |
| NG_008384.2:g.23126del | |
| NG_008384.3:g.23151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.642+172del MANE Select | ENSP00000360372.3:n.642+172del | |
| ENST00000645461.1:n.1695+172del | ||
| ENST00000371321.7:c.642+172del | ENSP00000360372.3:n.642+172del | |
| ENST00000464755.1:c.1405+172del | ENSP00000483243.1:n.1405+172del | |
| NM_000769.2:c.642+172del | NP_000760.1:n.642+172del | |
| NM_000769.4:c.642+172del MANE Select | NP_000760.1:n.642+172del |