HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898148_4898177del , CM000679.2:g.4898148_4898177del | GRCh38 |
NC_000017.10:g.4801443_4801472del , CM000679.1:g.4801443_4801472del | GRCh37 |
NC_000017.9:g.4742222_4742251del | NCBI36 |
NG_008029.2:g.9903_9932del | |
NG_028005.1:g.69809_69838del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.*563_*592del MANE Select | ENSP00000497829.1:n.*563_*592del | |
ENST00000649830.1:c.*681_*710del | ENSP00000496907.1:n.*681_*710del | |
ENST00000652550.1:n.1771_1800del | ||
ENST00000293780.4:c.*563_*592del | ENSP00000293780.4:n.*563_*592del | |
ENST00000572438.1:n.1731_1760del | ||
NM_000080.3:c.*563_*592del | NP_000071.1:n.*563_*592del | |
NM_000080.4:c.*563_*592del MANE Select | NP_000071.1:n.*563_*592del | |
XM_017024115.1:c.*563_*592del | XP_016879604.1:n.*563_*592del |