Linked Data
dbSNP Id:
rs752940357
ExAC:
3:9880728 CTTG / C
gnomAD v2:
3-9880728-CTTG-C
gnomAD v3:
3-9839044-CTTG-C
gnomAD v4:
3-9839044-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9839050_9839052del , CM000665.2:g.9839050_9839052del | GRCh38 |
| NC_000003.11:g.9880734_9880736del , CM000665.1:g.9880734_9880736del | GRCh37 |
| NC_000003.10:g.9855734_9855736del | NCBI36 |
| NG_054931.1:g.9972_9974del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383820.10:c.825_827del (RPUSD3) MANE Select | ENSP00000373331.6:p.Asn275del | |
| ENST00000433535.7:c.780_782del (RPUSD3) | ENSP00000398921.3:p.Asn260del | |
| ENST00000383820.9:c.849_851del (RPUSD3) | ENSP00000373331.5:p.Asn283del | |
| ENST00000423108.5:c.335_337del (RPUSD3) | ||
| ENST00000424438.5:c.629-840_629-838del (RPUSD3) | ENSP00000408693.1:n.629-840_629-838del | |
| ENST00000427174.5:c.849_851del (RPUSD3) | ||
| ENST00000433535.6:c.804_806del (RPUSD3) | ENSP00000398921.2:p.Asn268del | |
| ENST00000455274.5:c.918+9655_918+9657del (TTLL3) | ENSP00000409632.1:n.918+9655_918+9657del | |
| ENST00000464783.1:n.808_810del (RPUSD3) | ||
| ENST00000466141.1:n.667_669del (RPUSD3) | ||
| NM_001142547.1:c.804_806del (RPUSD3) | NP_001136019.1:p.Asn268del | |
| NM_173659.3:c.849_851del (RPUSD3) | NP_775930.2:p.Asn283del | |
| XM_011533627.1:c.725-840_725-838del (RPUSD3) | XP_011531929.1:n.725-840_725-838del | |
| NM_001142547.2:c.804_806del (RPUSD3) | NP_001136019.1:p.Asn268del | |
| NM_001351736.1:c.629-840_629-838del (RPUSD3) | NP_001338665.1:n.629-840_629-838del | |
| NM_001351737.1:c.725-840_725-838del (RPUSD3) | NP_001338666.1:n.725-840_725-838del | |
| NM_001351738.1:c.*7_*9del (RPUSD3) | NP_001338667.1:n.*7_*9del | |
| NM_173659.4:c.849_851del (RPUSD3) | NP_775930.2:p.Asn283del | |
| XM_024453471.1:c.849_851del (RPUSD3) | XP_024309239.1:p.Asn283del | |
| XM_024453472.1:c.724+1137_724+1139del (RPUSD3) | XP_024309240.1:n.724+1137_724+1139del | |
| NM_001351736.2:c.629-840_629-838del (RPUSD3) | NP_001338665.1:n.629-840_629-838del | |
| NM_001351736.3:c.629-840_629-838del (RPUSD3) | NP_001338665.1:n.629-840_629-838del | |
| NM_001142547.3:c.780_782del (RPUSD3) | NP_001136019.2:p.Asn260del | |
| NM_001351737.2:c.701-840_701-838del (RPUSD3) | NP_001338666.2:n.701-840_701-838del | |
| NM_001351738.2:c.*7_*9del (RPUSD3) | NP_001338667.2:n.*7_*9del | |
| NM_173659.5:c.825_827del (RPUSD3) MANE Select | NP_775930.3:p.Asn275del |