Linked Data
dbSNP Id:
rs2133439597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133365856del , CM000672.2:g.133365856del | GRCh38 |
| NC_000010.10:g.135179360del , CM000672.1:g.135179360del | GRCh37 |
| NC_000010.9:g.135029350del | NCBI36 |
| NG_042077.1:g.12549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.739+120del MANE Select | ENSP00000357535.3:n.739+120del | |
| ENST00000368547.3:c.739+120del | ENSP00000357535.3:n.739+120del | |
| NM_004092.3:c.739+120del | NP_004083.3:n.739+120del | |
| XR_002956965.1:n.1595+120del | ||
| NM_004092.4:c.739+120del MANE Select | NP_004083.3:n.739+120del |