HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81358030del , CM000678.2:g.81358030del | GRCh38 |
NC_000016.9:g.81391635del , CM000678.1:g.81391635del | GRCh37 |
NC_000016.8:g.79949136del | NCBI36 |
NG_009007.1:g.48065del , LRG_242:g.48065del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*681+99del | ENSP00000498114.1:n.*681+99del | |
ENST00000648994.2:c.973+99del MANE Select | ENSP00000497351.1:n.973+99del | |
ENST00000650388.1:c.507+99del | ENSP00000498081.1:n.507+99del | |
ENST00000568107.2:c.973+99del | ENSP00000476795.1:n.973+99del | |
NM_022041.3:c.973+99del , LRG_242t1:c.973+99del | NP_071324.1:n.973+99del | |
XM_017023734.1:c.334+99del | XP_016879223.1:n.334+99del | |
NM_001377486.1:c.334+99del | NP_001364415.1:n.334+99del | |
NM_022041.4:c.973+99del MANE Select | NP_071324.1:n.973+99del |