HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410946_48410951del , CM000677.2:g.48410946_48410951del | GRCh38 |
NC_000015.9:g.48703143_48703148del , CM000677.1:g.48703143_48703148del | GRCh37 |
NC_000015.8:g.46490435_46490440del | NCBI36 |
NG_008805.2:g.239841_239846del , LRG_778:g.239841_239846del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1466_*1471del | ENSP00000453958.2:n.*1466_*1471del | |
ENST00000682158.1:n.2039_2044del | ||
ENST00000682170.1:n.2839_2844del | ||
ENST00000682767.1:n.1955_1960del | ||
ENST00000316623.10:c.*42_*47del MANE Select | ENSP00000325527.5:n.*42_*47del | |
ENST00000316623.9:c.*42_*47del | ENSP00000325527.5:n.*42_*47del | |
ENST00000559133.5:c.4027_4032del | ||
NM_000138.4:c.*42_*47del , LRG_778t1:c.*42_*47del | NP_000129.3:n.*42_*47del | |
NM_000138.5:c.*42_*47del MANE Select | NP_000129.3:n.*42_*47del |