HGVS | Genome Assembly |
---|---|
NC_000010.11:g.73249440_73249441del , CM000672.2:g.73249440_73249441del | GRCh38 |
NC_000010.10:g.75009198_75009199del , CM000672.1:g.75009198_75009199del | GRCh37 |
NC_000010.9:g.74679204_74679205del | NCBI36 |
NG_008096.1:g.8254_8255del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372945.8:c.*1412_*1413del (MRPS16) MANE Select | ENSP00000362036.3:n.*1412_*1413del | |
ENST00000372940.3:c.275-122_275-121del (MRPS16) | ENSP00000362031.3:n.275-122_275-121del | |
ENST00000372945.7:c.*1412_*1413del (MRPS16) | ENSP00000362036.3:n.*1412_*1413del | |
ENST00000479005.1:n.1983_1984del (MRPS16) | ||
NM_016065.3:c.*1412_*1413del (MRPS16) | NP_057149.1:n.*1412_*1413del | |
NR_038373.1:n.175+990_175+991del (DNAJC9-AS1) | ||
NM_016065.4:c.*1412_*1413del (MRPS16) MANE Select | NP_057149.1:n.*1412_*1413del |