HGVS | Genome Assembly |
---|---|
NC_000002.12:g.208129563_208129569del , CM000664.2:g.208129563_208129569del | GRCh38 |
NC_000002.11:g.208994287_208994293del , CM000664.1:g.208994287_208994293del | GRCh37 |
NC_000002.10:g.208702532_208702538del | NCBI36 |
NG_008038.1:g.5266_5272del | |
NG_008039.1:g.25_31del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282141.4:c.128_134del MANE Select | ENSP00000282141.3:p.Trp43SerfsTer? | |
ENST00000282141.3:c.128_134del | ENSP00000282141.3:p.Trp43SerfsTer? | |
NM_020989.3:c.128_134del | NP_066269.1:p.Trp43SerfsTer? | |
NR_038437.1:n.98-7493_98-7487del | ||
XM_011510661.1:c.128_134del | XP_011508963.1:p.Trp43SerfsTer? | |
XM_011510662.1:c.128_134del | XP_011508964.1:p.Trp43SerfsTer? | |
XM_011510663.1:c.-2_5del | ||
NM_020989.4:c.128_134del MANE Select | NP_066269.1:p.Trp43SerfsTer? |