Linked Data
dbSNP Id:
rs769380840
gnomAD v2:
4-648251-CGT-C
gnomAD v3:
4-654462-CGT-C
gnomAD v4:
4-654462-CGT-C
MyVariant Identifiers:
chr4:g.648254_648255del (hg19)
chr4:g.654465_654466del (hg38)
chr4:g.654463_654464del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.654480_654481del , CM000666.2:g.654480_654481del | GRCh38 |
| NC_000004.11:g.648269_648270del , CM000666.1:g.648269_648270del | GRCh37 |
| NC_000004.10:g.638269_638270del | NCBI36 |
| NG_009839.1:g.33907_33908del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.927+326_927+327del (PDE6B) MANE Select | ENSP00000420295.1:n.927+326_927+327del | |
| ENST00000255622.10:c.927+326_927+327del (PDE6B) | ENSP00000255622.6:n.927+326_927+327del | |
| ENST00000429163.6:c.90+326_90+327del (PDE6B) | ENSP00000406334.2:n.90+326_90+327del | |
| ENST00000465426.5:c.90+326_90+327del (PDE6B) | ENSP00000418454.1:n.90+326_90+327del | |
| ENST00000476034.5:n.823_824del (PDE6B) | ||
| ENST00000487902.5:c.90+326_90+327del (PDE6B) | ENSP00000418256.1:n.90+326_90+327del | |
| ENST00000496514.5:c.927+326_927+327del (PDE6B) | ENSP00000420295.1:n.927+326_927+327del | |
| NM_000283.3:c.927+326_927+327del (PDE6B) | NP_000274.2:n.927+326_927+327del | |
| NM_001145291.1:c.927+326_927+327del (PDE6B) | NP_001138763.1:n.927+326_927+327del | |
| NM_001145292.1:c.90+326_90+327del (PDE6B) | NP_001138764.1:n.90+326_90+327del | |
| XM_011513473.1:c.1146+326_1146+327del (PDE6B) | XP_011511775.1:n.1146+326_1146+327del | |
| XM_011513474.1:c.1146+326_1146+327del (PDE6B) | XP_011511776.1:n.1146+326_1146+327del | |
| XM_011513475.1:c.927+326_927+327del (PDE6B) | XP_011511777.1:n.927+326_927+327del | |
| XM_011513476.1:c.1146+326_1146+327del (PDE6B) | XP_011511778.1:n.1146+326_1146+327del | |
| XM_011513477.1:c.-145_-144del (PDE6B) | XP_011511779.1:n.-145_-144del | |
| XM_011513478.1:c.-488_-487del (PDE6B) | XP_011511780.1:n.-488_-487del | |
| XR_246615.2:n.866-251_866-250del (PDE6B-AS1) | ||
| XR_925030.1:n.866-493_866-492del (PDE6B-AS1) | ||
| NM_001350154.1:c.90+326_90+327del (PDE6B) | NP_001337083.1:n.90+326_90+327del | |
| NM_001350155.1:c.-114+326_-114+327del (PDE6B) | NP_001337084.1:n.-114+326_-114+327del | |
| XM_011513473.3:c.1146+326_1146+327del (PDE6B) | XP_011511775.1:n.1146+326_1146+327del | |
| XM_011513474.3:c.1146+326_1146+327del (PDE6B) | XP_011511776.1:n.1146+326_1146+327del | |
| XM_011513475.2:c.927+326_927+327del (PDE6B) | XP_011511777.1:n.927+326_927+327del | |
| XM_011513476.3:c.1146+326_1146+327del (PDE6B) | XP_011511778.1:n.1146+326_1146+327del | |
| XM_011513478.2:c.-488_-487del (PDE6B) | XP_011511780.1:n.-488_-487del | |
| XM_017008284.1:c.90+326_90+327del (PDE6B) | XP_016863773.1:n.90+326_90+327del | |
| XM_017008285.1:c.90+326_90+327del (PDE6B) | XP_016863774.1:n.90+326_90+327del | |
| XM_017008286.1:c.90+326_90+327del (PDE6B) | XP_016863775.1:n.90+326_90+327del | |
| XR_001741541.1:n.1108-493_1108-492del (PDE6B-AS1) | ||
| XR_246615.3:n.1108-251_1108-250del (PDE6B-AS1) | ||
| NM_001350154.2:c.90+326_90+327del (PDE6B) | NP_001337083.1:n.90+326_90+327del | |
| NM_001350155.2:c.-114+326_-114+327del (PDE6B) | NP_001337084.1:n.-114+326_-114+327del | |
| NM_000283.4:c.927+326_927+327del (PDE6B) MANE Select | NP_000274.3:n.927+326_927+327del | |
| NM_001145291.2:c.927+326_927+327del (PDE6B) | NP_001138763.2:n.927+326_927+327del | |
| NM_001145292.2:c.90+326_90+327del (PDE6B) | NP_001138764.2:n.90+326_90+327del | |
| NM_001350154.3:c.90+326_90+327del (PDE6B) | NP_001337083.1:n.90+326_90+327del | |
| NM_001350155.3:c.-114+326_-114+327del (PDE6B) | NP_001337084.1:n.-114+326_-114+327del | |
| NM_001379246.1:c.90+326_90+327del (PDE6B) | NP_001366175.1:n.90+326_90+327del | |
| NM_001379247.1:c.90+326_90+327del (PDE6B) | NP_001366176.1:n.90+326_90+327del |