Linked Data
dbSNP Id:
rs1848479469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781667_94781668del , CM000672.2:g.94781667_94781668del | GRCh38 |
| NC_000010.10:g.96541424_96541425del , CM000672.1:g.96541424_96541425del | GRCh37 |
| NC_000010.9:g.96531414_96531415del | NCBI36 |
| NG_008384.2:g.23962_23963del | |
| NG_008384.3:g.23987_23988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.643-154_643-153del MANE Select | ENSP00000360372.3:n.643-154_643-153del | |
| ENST00000645461.1:n.1696-154_1696-153del | ||
| ENST00000371321.7:c.643-154_643-153del | ENSP00000360372.3:n.643-154_643-153del | |
| ENST00000464755.1:c.1406-154_1406-153del | ENSP00000483243.1:n.1406-154_1406-153del | |
| NM_000769.2:c.643-154_643-153del | NP_000760.1:n.643-154_643-153del | |
| NM_000769.4:c.643-154_643-153del MANE Select | NP_000760.1:n.643-154_643-153del |