Linked Data
dbSNP Id:
rs1462929547
gnomAD v2:
1-93303280-GGT-G
gnomAD v3:
1-92837723-GGT-G
gnomAD v4:
1-92837723-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92837728_92837729del , CM000663.2:g.92837728_92837729del | GRCh38 |
| NC_000001.10:g.93303285_93303286del , CM000663.1:g.93303285_93303286del | GRCh37 |
| NC_000001.9:g.93075873_93075874del | NCBI36 |
| NG_011779.1:g.10692_10693del | |
| NG_033051.1:g.128798_128799del | |
| NG_011779.2:g.10743_10744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.705+95_705+96del (RPL5) MANE Select | ENSP00000359345.2:n.705+95_705+96del | |
| ENST00000645119.1:c.324+2815_324+2816del (RPL5) | ENSP00000493811.1:n.324+2815_324+2816del | |
| ENST00000645300.1:c.555+95_555+96del (RPL5) | ENSP00000495589.1:n.555+95_555+96del | |
| ENST00000645908.1:n.534_535del (RPL5) | ||
| ENST00000370321.7:c.705+95_705+96del (RPL5) | ENSP00000359345.2:n.705+95_705+96del | |
| ENST00000497519.1:n.1024+95_1024+96del (RPL5) | ||
| ENST00000615519.4:c.475-4691_475-4690del (DIPK1A) | ENSP00000483279.1:n.475-4691_475-4690del | |
| NM_000969.3:c.705+95_705+96del (RPL5) | NP_000960.2:n.705+95_705+96del | |
| NM_001252273.1:c.475-4691_475-4690del (DIPK1A) | NP_001239202.1:n.475-4691_475-4690del | |
| NM_000969.5:c.705+95_705+96del (RPL5) MANE Select | NP_000960.2:n.705+95_705+96del | |
| NR_146333.1:n.764+95_764+96del (RPL5) | ||
| NM_001252273.2:c.475-4691_475-4690del (DIPK1A) | NP_001239202.1:n.475-4691_475-4690del |