HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94853042_94853043del , CM000672.2:g.94853042_94853043del | GRCh38 |
NC_000010.10:g.96612799_96612800del , CM000672.1:g.96612799_96612800del | GRCh37 |
NC_000010.9:g.96602789_96602790del | NCBI36 |
NG_008384.2:g.95337_95338del | |
NG_008384.3:g.95362_95363del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.*128_*129del MANE Select | ENSP00000360372.3:n.*128_*129del | |
ENST00000645461.1:n.2512_2513del | ||
ENST00000371321.7:c.*128_*129del | ENSP00000360372.3:n.*128_*129del | |
ENST00000464755.1:c.2364_2365del | ENSP00000483243.1:n.2364_2365del | |
NM_000769.2:c.*128_*129del | NP_000760.1:n.*128_*129del | |
NM_000769.4:c.*128_*129del MANE Select | NP_000760.1:n.*128_*129del |