HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56449982_56449984del , CM000674.2:g.56449982_56449984del | GRCh38 |
NC_000012.11:g.56843766_56843768del , CM000674.1:g.56843766_56843768del | GRCh37 |
NC_000012.10:g.55130033_55130035del | NCBI36 |
NG_021397.1:g.9671_9673del | |
NG_021397.2:g.24186_24188del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648304.1:c.*1715_*1717del | ENSP00000497190.1:n.*1715_*1717del | |
ENST00000652304.1:c.*1299_*1301del MANE Select | ENSP00000498622.1:n.*1299_*1301del | |
ENST00000257979.4:c.*1299_*1301del | ENSP00000257979.4:n.*1299_*1301del | |
NM_012064.3:c.*1299_*1301del | NP_036196.1:n.*1299_*1301del | |
XM_011538354.1:c.*1299_*1301del | XP_011536656.1:n.*1299_*1301del | |
NM_012064.4:c.*1299_*1301del MANE Select | NP_036196.1:n.*1299_*1301del | |
XM_017019306.1:c.*1299_*1301del | XP_016874795.1:n.*1299_*1301del |