HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256423_34256424del , CM000679.2:g.34256423_34256424del | GRCh38 |
NC_000017.10:g.32583442_32583443del , CM000679.1:g.32583442_32583443del | GRCh37 |
NC_000017.9:g.29607555_29607556del | NCBI36 |
NG_012123.1:g.6147_6148del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.*80_*81del | ENSP00000462156.1:n.*80_*81del | |
ENST00000624362.2:n.1139_1140del | ||
ENST00000225831.4:c.194+84_194+85del MANE Select | ENSP00000225831.4:n.194+84_194+85del | |
ENST00000580907.5:c.*80_*81del | ENSP00000462156.1:n.*80_*81del | |
ENST00000582017.1:n.216_217del | ||
NM_002982.3:c.194+84_194+85del | NP_002973.1:n.194+84_194+85del | |
NM_002982.4:c.194+84_194+85del MANE Select | NP_002973.1:n.194+84_194+85del |