HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410930del , CM000677.2:g.48410930del | GRCh38 |
NC_000015.9:g.48703127del , CM000677.1:g.48703127del | GRCh37 |
NC_000015.8:g.46490419del | NCBI36 |
NG_008805.2:g.239862del , LRG_778:g.239862del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1487del | ENSP00000453958.2:n.*1487del | |
ENST00000682158.1:n.2060del | ||
ENST00000682170.1:n.2860del | ||
ENST00000682767.1:n.1976del | ||
ENST00000316623.10:c.*63del MANE Select | ENSP00000325527.5:n.*63del | |
ENST00000316623.9:c.*63del | ENSP00000325527.5:n.*63del | |
ENST00000559133.5:c.4048del | ||
NM_000138.4:c.*63del , LRG_778t1:c.*63del | NP_000129.3:n.*63del | |
NM_000138.5:c.*63del MANE Select | NP_000129.3:n.*63del |