HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256395_34256397del , CM000679.2:g.34256395_34256397del | GRCh38 |
NC_000017.10:g.32583414_32583416del , CM000679.1:g.32583414_32583416del | GRCh37 |
NC_000017.9:g.29607527_29607529del | NCBI36 |
NG_012123.1:g.6119_6121del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*52_*54del | ENSP00000462156.1:n.*52_*54del | |
ENST00000624362.2:n.1111_1113del | ||
ENST00000225831.4:c.194+56_194+58del MANE Select | ENSP00000225831.4:n.194+56_194+58del | |
ENST00000580907.5:c.*52_*54del | ENSP00000462156.1:n.*52_*54del | |
ENST00000582017.1:n.188_190del | ||
NM_002982.3:c.194+56_194+58del | NP_002973.1:n.194+56_194+58del | |
NM_002982.4:c.194+56_194+58del MANE Select | NP_002973.1:n.194+56_194+58del |