Linked Data
dbSNP Id:
rs1157824830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259551_24259553del , CM000676.2:g.24259551_24259553del | GRCh38 |
| NC_000014.8:g.24728757_24728759del , CM000676.1:g.24728757_24728759del | GRCh37 |
| NC_000014.7:g.23798597_23798599del | NCBI36 |
| NG_007150.1:g.8617_8619del | |
| NG_007150.2:g.8617_8619del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.984+154_984+156del MANE Select | ENSP00000206765.6:n.984+154_984+156del | |
| ENST00000206765.10:c.984+154_984+156del | ENSP00000206765.6:n.984+154_984+156del | |
| ENST00000544573.5:c.-28-1162_-28-1160del | ENSP00000439446.1:n.-28-1162_-28-1160del | |
| ENST00000559136.1:c.57+154_57+156del | ENSP00000453337.1:n.57+154_57+156del | |
| NM_000359.2:c.984+154_984+156del | NP_000350.1:n.984+154_984+156del | |
| NM_000359.3:c.984+154_984+156del MANE Select | NP_000350.1:n.984+154_984+156del |