Linked Data
ClinVar Variation Id:
2875085
ClinVar RCV Id:
RCV003714895
gnomAD v4:
15-65050057-AGGAGCTGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65050061_65050069del , CM000677.2:g.65050061_65050069del | GRCh38 |
| NC_000015.9:g.65342399_65342407del , CM000677.1:g.65342399_65342407del | GRCh37 |
| NC_000015.8:g.63129452_63129460del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.57_65del (SLC51B) MANE Select | ENSP00000335292.2:p.Leu20_Glu22del | |
| ENST00000334287.2:c.57_65del (SLC51B) | ENSP00000335292.2:p.Leu20_Glu22del | |
| NM_178859.3:c.57_65del (SLC51B) | NP_849190.2:p.Leu20_Glu22del | |
| XM_005254159.3:c.57_65del (SLC51B) | XP_005254216.1:p.Leu20_Glu22del | |
| XM_005254434.3:c.426-4322_426-4314del (RASL12) | XP_005254491.1:n.426-4322_426-4314del | |
| XM_005254159.5:c.57_65del (SLC51B) | XP_005254216.1:p.Leu20_Glu22del | |
| XM_005254434.4:c.426-4322_426-4314del (RASL12) | XP_005254491.1:n.426-4322_426-4314del | |
| NM_178859.4:c.57_65del (SLC51B) MANE Select | NP_849190.2:p.Leu20_Glu22del |