HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562939del , CM000682.2:g.57562939del | GRCh38 |
NC_000020.10:g.56137995del , CM000682.1:g.56137995del | GRCh37 |
NC_000020.9:g.55571401del | NCBI36 |
NG_008205.1:g.6859del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.610+40del MANE Select | ENSP00000319814.4:n.610+40del | |
ENST00000319441.5:c.610+40del | ENSP00000319814.4:n.610+40del | |
ENST00000467047.1:n.1860del | ||
ENST00000470051.1:n.106del | ||
ENST00000498194.1:n.552+40del | ||
NM_002591.3:c.610+40del | NP_002582.3:n.610+40del | |
XM_011528839.1:c.214+40del | XP_011527141.1:n.214+40del | |
XM_024451888.1:c.214+40del | XP_024307656.1:n.214+40del | |
NM_002591.4:c.610+40del MANE Select | NP_002582.3:n.610+40del |