HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10644667_10644675del , CM000682.2:g.10644667_10644675del | GRCh38 |
NC_000020.10:g.10625315_10625323del , CM000682.1:g.10625315_10625323del | GRCh37 |
NC_000020.9:g.10573315_10573323del | NCBI36 |
NG_007496.1:g.34372_34380del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2344+188_2344+196del MANE Select | ENSP00000254958.4:n.2344+188_2344+196del | |
ENST00000617965.2:n.2933+188_2933+196del | ||
ENST00000254958.9:c.2344+188_2344+196del | ENSP00000254958.4:n.2344+188_2344+196del | |
ENST00000423891.6:n.2210+188_2210+196del | ||
ENST00000488480.2:n.929_937del | ||
NM_000214.2:c.2344+188_2344+196del | NP_000205.1:n.2344+188_2344+196del | |
NM_000214.3:c.2344+188_2344+196del MANE Select | NP_000205.1:n.2344+188_2344+196del |