Linked Data
dbSNP Id:
rs782394689
ExAC:
7:73097773 CG / C
gnomAD v2:
7-73097773-CG-C
gnomAD v4:
7-73683443-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683445del , CM000669.2:g.73683445del | GRCh38 |
| NC_000007.13:g.73097775del , CM000669.1:g.73097775del | GRCh37 |
| NC_000007.12:g.72735711del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.-21del (DNAJC30) MANE Select | ENSP00000378605.1:n.-21del | |
| ENST00000395176.2:c.-21del (DNAJC30) | ENSP00000378605.1:n.-21del | |
| ENST00000464615.1:n.359+62del (BUD23) | ||
| NM_032317.2:c.-21del (DNAJC30) | NP_115693.2:n.-21del | |
| NM_032317.3:c.-21del (DNAJC30) MANE Select | NP_115693.2:n.-21del |