HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73683074del , CM000669.2:g.73683074del | GRCh38 |
NC_000007.13:g.73097404del , CM000669.1:g.73097404del | GRCh37 |
NC_000007.12:g.72735340del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395176.3:c.350del (DNAJC30) MANE Select | ENSP00000378605.1:p.Asp117AlafsTer? | |
ENST00000395176.2:c.350del (DNAJC30) | ENSP00000378605.1:p.Asp117AlafsTer? | |
ENST00000464615.1:n.50del (BUD23) | ||
NM_032317.2:c.350del (DNAJC30) | NP_115693.2:p.Asp117AlafsTer? | |
NM_032317.3:c.350del (DNAJC30) MANE Select | NP_115693.2:p.Asp117AlafsTer? |