HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898729_4898733del , CM000679.2:g.4898729_4898733del | GRCh38 |
NC_000017.10:g.4802024_4802028del , CM000679.1:g.4802024_4802028del | GRCh37 |
NC_000017.9:g.4742803_4742807del | NCBI36 |
NG_008029.2:g.9345_9349del | |
NG_028005.1:g.70390_70394del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*5_*9del MANE Select | ENSP00000497829.1:n.*5_*9del | |
ENST00000649830.1:c.*123_*127del | ENSP00000496907.1:n.*123_*127del | |
ENST00000652550.1:n.1213_1217del | ||
ENST00000293780.4:c.*5_*9del | ENSP00000293780.4:n.*5_*9del | |
ENST00000572438.1:n.1173_1177del | ||
NM_000080.3:c.*5_*9del | NP_000071.1:n.*5_*9del | |
NM_000080.4:c.*5_*9del MANE Select | NP_000071.1:n.*5_*9del | |
XM_017024115.1:c.*5_*9del | XP_016879604.1:n.*5_*9del |