HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256506_34256507del , CM000679.2:g.34256506_34256507del | GRCh38 |
NC_000017.10:g.32583525_32583526del , CM000679.1:g.32583525_32583526del | GRCh37 |
NC_000017.9:g.29607638_29607639del | NCBI36 |
NG_012123.1:g.6230_6231del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*163_*164del | ENSP00000462156.1:n.*163_*164del | |
ENST00000624362.2:n.1222_1223del | ||
ENST00000225831.4:c.194+167_194+168del MANE Select | ENSP00000225831.4:n.194+167_194+168del | |
ENST00000580907.5:c.*163_*164del | ENSP00000462156.1:n.*163_*164del | |
ENST00000582017.1:n.299_300del | ||
NM_002982.3:c.194+167_194+168del | NP_002973.1:n.194+167_194+168del | |
NM_002982.4:c.194+167_194+168del MANE Select | NP_002973.1:n.194+167_194+168del |