HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898155_4898184del , CM000679.2:g.4898155_4898184del | GRCh38 |
NC_000017.10:g.4801450_4801479del , CM000679.1:g.4801450_4801479del | GRCh37 |
NC_000017.9:g.4742229_4742258del | NCBI36 |
NG_008029.2:g.9898_9927del | |
NG_028005.1:g.69816_69845del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*558_*587del MANE Select | ENSP00000497829.1:n.*558_*587del | |
ENST00000649830.1:c.*676_*705del | ENSP00000496907.1:n.*676_*705del | |
ENST00000652550.1:n.1766_1795del | ||
ENST00000293780.4:c.*558_*587del | ENSP00000293780.4:n.*558_*587del | |
ENST00000572438.1:n.1726_1755del | ||
NM_000080.3:c.*558_*587del | NP_000071.1:n.*558_*587del | |
NM_000080.4:c.*558_*587del MANE Select | NP_000071.1:n.*558_*587del | |
XM_017024115.1:c.*558_*587del | XP_016879604.1:n.*558_*587del |