Linked Data
dbSNP Id:
rs782623205
ExAC:
7:73097471 AG / A
gnomAD v2:
7-73097471-AG-A
gnomAD v3:
7-73683141-AG-A
gnomAD v4:
7-73683141-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683142del , CM000669.2:g.73683142del | GRCh38 |
| NC_000007.13:g.73097472del , CM000669.1:g.73097472del | GRCh37 |
| NC_000007.12:g.72735408del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.282del (DNAJC30) MANE Select | ENSP00000378605.1:p.Ser95ProfsTer? | |
| ENST00000395176.2:c.282del (DNAJC30) | ENSP00000378605.1:p.Ser95ProfsTer? | |
| ENST00000464615.1:n.118del (BUD23) | ||
| NM_032317.2:c.282del (DNAJC30) | NP_115693.2:p.Ser95ProfsTer? | |
| NM_032317.3:c.282del (DNAJC30) MANE Select | NP_115693.2:p.Ser95ProfsTer? |