HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981713_149981714del , CM000667.2:g.149981713_149981714del | GRCh38 |
NC_000005.9:g.149361276_149361277del , CM000667.1:g.149361276_149361277del | GRCh37 |
NC_000005.8:g.149341469_149341470del | NCBI36 |
NG_007147.2:g.22831_22832del , LRG_684:g.22831_22832del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.2120_2121del MANE Select | ENSP00000286298.4:p.Leu707ProfsTer4 | |
ENST00000286298.4:c.2120_2121del | ENSP00000286298.4:p.Leu707ProfsTer4 | |
ENST00000503336.1:c.372+3362_372+3363del | ENSP00000426053.1:n.372+3362_372+3363del | |
NM_000112.3:c.2120_2121del , LRG_684t1:c.2120_2121del | NP_000103.2:p.Leu707ProfsTer4 | |
XM_017009191.2:c.2120_2121del | XP_016864680.1:p.Leu707ProfsTer4 | |
NM_000112.4:c.2120_2121del MANE Select | NP_000103.2:p.Leu707ProfsTer4 |