HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10644643_10644644del , CM000682.2:g.10644643_10644644del | GRCh38 |
NC_000020.10:g.10625291_10625292del , CM000682.1:g.10625291_10625292del | GRCh37 |
NC_000020.9:g.10573291_10573292del | NCBI36 |
NG_007496.1:g.34404_34405del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2344+220_2344+221del MANE Select | ENSP00000254958.4:n.2344+220_2344+221del | |
ENST00000617965.2:n.2933+220_2933+221del | ||
ENST00000254958.9:c.2344+220_2344+221del | ENSP00000254958.4:n.2344+220_2344+221del | |
ENST00000423891.6:n.2210+220_2210+221del | ||
ENST00000488480.2:n.961_962del | ||
NM_000214.2:c.2344+220_2344+221del | NP_000205.1:n.2344+220_2344+221del | |
NM_000214.3:c.2344+220_2344+221del MANE Select | NP_000205.1:n.2344+220_2344+221del |