HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44006711_44006716del , CM000679.2:g.44006711_44006716del | GRCh38 |
NC_000017.10:g.42084079_42084084del , CM000679.1:g.42084079_42084084del | GRCh37 |
NC_000017.9:g.39439605_39439610del | NCBI36 |
NG_008106.1:g.7048_7053del | |
NG_023338.1:g.2758_2763del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293404.8:c.1096+2_1096+7del (NAGS) | ||
ENST00000293404.7:c.1096+2_1096+7del (NAGS) | ||
ENST00000589767.1:c.1003+2_1003+7del (NAGS) | ||
ENST00000592915.1:n.373_378del (NAGS) | ||
NM_153006.2:c.1096+2_1096+7del (NAGS) | ||
XM_011524438.1:c.1096+2_1096+7del (NAGS) | ||
XM_011524439.1:c.598+2_598+7del (NAGS) | ||
XM_011525035.1:c.-463+16860_-463+16865del (PYY) | XP_011523337.1:n.-463+16860_-463+16865del | |
XM_011524439.2:c.598+2_598+7del (NAGS) | ||
NM_153006.3:c.1096+2_1096+7del (NAGS) |