HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304636del , CM000663.2:g.152304636del | GRCh38 |
NC_000001.10:g.152277112del , CM000663.1:g.152277112del | GRCh37 |
NC_000001.9:g.150543736del | NCBI36 |
NG_016190.1:g.25568del , LRG_1028:g.25568del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.10250del MANE Select | ENSP00000357789.1:p.Gln3417ArgfsTer? | |
ENST00000368799.1:c.10250del | ENSP00000357789.1:p.Gln3417ArgfsTer? | |
NM_002016.1:c.10250del , LRG_1028t1:c.10250del | NP_002007.1:p.Gln3417ArgfsTer? | |
XM_011509329.1:c.9109-803del | XP_011507631.1:n.9109-803del | |
NM_002016.2:c.10250del MANE Select | NP_002007.1:p.Gln3417ArgfsTer? |