HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259216del , CM000676.2:g.24259216del | GRCh38 |
NC_000014.8:g.24728422del , CM000676.1:g.24728422del | GRCh37 |
NC_000014.7:g.23798262del | NCBI36 |
NG_007150.1:g.8953del | |
NG_007150.2:g.8953del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1020del MANE Select | ENSP00000206765.6:p.Asn341ThrfsTer? | |
ENST00000206765.10:c.1020del | ENSP00000206765.6:p.Asn341ThrfsTer? | |
ENST00000544573.5:c.-28-826del | ENSP00000439446.1:n.-28-826del | |
ENST00000559136.1:c.93del | ENSP00000453337.1:p.Asn32ThrfsTer? | |
NM_000359.2:c.1020del | NP_000350.1:p.Asn341ThrfsTer? | |
NM_000359.3:c.1020del MANE Select | NP_000350.1:p.Asn341ThrfsTer? |