HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022650del , CM000663.2:g.17022650del | GRCh38 |
NC_000001.10:g.17349145del , CM000663.1:g.17349145del | GRCh37 |
NC_000001.9:g.17221732del | NCBI36 |
NG_012340.1:g.36522del , LRG_316:g.36522del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.553del | ENSP00000481376.2:p.Arg185AlafsTer6 | |
ENST00000491274.6:c.682del | ENSP00000480482.2:p.Arg228AlafsTer6 | |
ENST00000375499.8:c.724del MANE Select | ENSP00000364649.3:p.Arg242AlafsTer6 | |
ENST00000375499.7:c.724del | ENSP00000364649.3:p.Arg242AlafsTer6 | |
ENST00000475049.5:n.149del | ||
ENST00000485092.5:n.388del | ||
ENST00000485515.5:n.658del | ||
NM_003000.2:c.724del , LRG_316t1:c.724del | NP_002991.2:p.Arg242AlafsTer6 | |
NM_003000.3:c.724del MANE Select | NP_002991.2:p.Arg242AlafsTer6 |