HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10644850_10644851dup , CM000682.2:g.10644850_10644851dup | GRCh38 |
NC_000020.10:g.10625498_10625499dup , CM000682.1:g.10625498_10625499dup | GRCh37 |
NC_000020.9:g.10573498_10573499dup | NCBI36 |
NG_007496.1:g.34200_34201dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.2344+16_2344+17dup MANE Select | ENSP00000254958.4:n.2344+16_2344+17dup | |
ENST00000617965.2:n.2933+16_2933+17dup | ||
ENST00000254958.9:c.2344+16_2344+17dup | ENSP00000254958.4:n.2344+16_2344+17dup | |
ENST00000423891.6:n.2210+16_2210+17dup | ||
ENST00000488480.2:n.757_758dup | ||
NM_000214.2:c.2344+16_2344+17dup | NP_000205.1:n.2344+16_2344+17dup | |
NM_000214.3:c.2344+16_2344+17dup MANE Select | NP_000205.1:n.2344+16_2344+17dup |