HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87709218del , CM000672.2:g.87709218del | GRCh38 |
NC_000010.10:g.89468975del , CM000672.1:g.89468975del | GRCh37 |
NC_000010.9:g.89458955del | NCBI36 |
NG_012150.1:g.54500del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000456849.2:c.50del MANE Select | ENSP00000406157.1:p.Asn17MetfsTer2 | |
ENST00000361175.8:c.50del | ENSP00000354436.4:p.Asn17MetfsTer2 | |
ENST00000456849.1:c.50del | ENSP00000406157.1:p.Asn17MetfsTer2 | |
ENST00000465996.5:n.72del | ||
ENST00000482258.1:n.93del | ||
NM_001015880.1:c.50del | NP_001015880.1:p.Asn17MetfsTer2 | |
NM_004670.3:c.50del | NP_004661.2:p.Asn17MetfsTer2 | |
NM_001015880.2:c.50del MANE Select | NP_001015880.1:p.Asn17MetfsTer2 | |
NM_004670.4:c.50del | NP_004661.2:p.Asn17MetfsTer2 |