HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859647_31859650del , CM000668.2:g.31859647_31859650del | GRCh38 |
NC_000006.11:g.31827424_31827427del , CM000668.1:g.31827424_31827427del | GRCh37 |
NC_000006.10:g.31935403_31935406del | NCBI36 |
NG_008201.1:g.8284_8287del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.*70_*73del MANE Select | ENSP00000364782.4:n.*70_*73del | |
ENST00000677054.1:n.2657_2660del | ||
ENST00000677512.1:n.1595_1598del | ||
ENST00000678869.1:n.1906_1909del | ||
ENST00000375631.4:c.*70_*73del | ENSP00000364782.4:n.*70_*73del | |
ENST00000480384.1:n.1617_1620del | ||
ENST00000491768.5:c.*428_*431del | ENSP00000433127.1:n.*428_*431del | |
ENST00000495807.1:n.2626_2629del | ||
NM_000434.3:c.*70_*73del | NP_000425.1:n.*70_*73del | |
NM_000434.4:c.*70_*73del MANE Select | NP_000425.1:n.*70_*73del |