HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154966470_154966472del , CM000685.2:g.154966470_154966472del | GRCh38 |
NC_000023.10:g.154194745_154194747del , CM000685.1:g.154194745_154194747del | GRCh37 |
NC_000023.9:g.153847939_153847941del | NCBI36 |
NG_011403.1:g.61257_61259del | |
NG_011403.2:g.61257_61259del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1230_1232del MANE Select | ENSP00000353393.4:p.Glu410del | |
ENST00000647125.1:c.*1106_*1108del | ENSP00000496062.1:n.*1106_*1108del | |
ENST00000360256.8:c.1230_1232del | ENSP00000353393.4:p.Glu410del | |
ENST00000483822.2:n.50_52del | ||
NM_000132.3:c.1230_1232del | NP_000123.1:p.Glu410del | |
XM_011531126.1:c.1125_1127del | XP_011529428.1:p.Glu375del | |
NM_000132.4:c.1230_1232del MANE Select | NP_000123.1:p.Glu410del |