HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178395del , CM000668.2:g.24178395del | GRCh38 |
NC_000006.11:g.24178623del , CM000668.1:g.24178623del | GRCh37 |
NC_000006.10:g.24286602del | NCBI36 |
NG_012829.1:g.184659del | |
NG_012829.2:g.209899del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.1262del MANE Select | ENSP00000367715.3:p.Asn421MetfsTer7 | |
ENST00000378450.6:c.521del | ENSP00000367711.3:p.Asn174MetfsTer7 | |
ENST00000378454.7:c.1262del | ENSP00000367715.3:p.Asn421MetfsTer7 | |
NM_001195610.1:c.1262del | NP_001182539.1:p.Asn421MetfsTer7 | |
NM_016356.4:c.1262del | NP_057440.2:p.Asn421MetfsTer7 | |
NM_016356.5:c.1262del MANE Select | NP_057440.2:p.Asn421MetfsTer7 | |
NM_001195610.2:c.1262del | NP_001182539.1:p.Asn421MetfsTer7 |