HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586412_41586473del , CM000679.2:g.41586412_41586473del | GRCh38 |
NC_000017.10:g.39742664_39742725del , CM000679.1:g.39742664_39742725del | GRCh37 |
NC_000017.9:g.36996190_36996251del | NCBI36 |
NG_008624.1:g.5423_5484del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.362_423del MANE Select | ENSP00000167586.6:p.Asn121ArgfsTer8 | |
ENST00000167586.6:c.362_423del | ENSP00000167586.6:p.Asn121ArgfsTer8 | |
NM_000526.4:c.362_423del | NP_000517.2:p.Asn121ArgfsTer8 | |
NM_000526.5:c.362_423del MANE Select | NP_000517.3:p.Asn121ArgfsTer8 |