HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67939983_67940001del , CM000678.2:g.67939983_67940001del | GRCh38 |
NC_000016.9:g.67973886_67973904del , CM000678.1:g.67973886_67973904del | GRCh37 |
NC_000016.8:g.66531387_66531405del | NCBI36 |
NG_009778.1:g.9114_9132del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.1228_1246del MANE Select | ENSP00000264005.5:p.Thr410ProfsTer? | |
ENST00000264005.9:c.1228_1246del | ENSP00000264005.5:p.Thr410ProfsTer? | |
ENST00000570369.5:c.231_249del | ||
ENST00000573538.5:c.966_984del | ENSP00000463220.1:n.966_984del | |
NM_000229.1:c.1228_1246del | NP_000220.1:p.Thr410ProfsTer? | |
NM_000229.2:c.1228_1246del MANE Select | NP_000220.1:p.Thr410ProfsTer? |