Linked Data
dbSNP Id:
rs113424906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683390del , CM000669.2:g.73683390del | GRCh38 |
| NC_000007.13:g.73097720del , CM000669.1:g.73097720del | GRCh37 |
| NC_000007.12:g.72735656del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.34del (DNAJC30) MANE Select | ENSP00000378605.1:p.Leu12CysfsTer22 | |
| ENST00000395176.2:c.34del (DNAJC30) | ENSP00000378605.1:p.Leu12CysfsTer22 | |
| ENST00000464615.1:n.359+7del (BUD23) | ||
| NM_032317.2:c.34del (DNAJC30) | NP_115693.2:p.Leu12CysfsTer22 | |
| NM_032317.3:c.34del (DNAJC30) MANE Select | NP_115693.2:p.Leu12CysfsTer22 |