HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47350224_47350231del , CM000672.2:g.47350224_47350231del | GRCh38 |
NC_000010.10:g.48389131_48389138del , CM000672.1:g.48389131_48389138del | GRCh37 |
NC_000010.9:g.48009137_48009144del | NCBI36 |
NG_029718.1:g.6854_6861del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000584701.2:c.1740_1747del MANE Select | ENSP00000463151.1:p.Leu581HisfsTer? | |
ENST00000584701.1:c.1740_1747del | ENSP00000463151.1:p.Leu581HisfsTer? | |
NM_002900.2:c.1740_1747del | NP_002891.1:p.Leu581HisfsTer? | |
NM_002900.3:c.1740_1747del MANE Select | NP_002891.1:p.Leu581HisfsTer? |