HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240877576_240877578del , CM000664.2:g.240877576_240877578del | GRCh38 |
NC_000002.11:g.241816993_241816995del , CM000664.1:g.241816993_241816995del | GRCh37 |
NC_000002.10:g.241465666_241465668del | NCBI36 |
NG_008005.1:g.13832_13834del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.886_888del MANE Select | ENSP00000302620.3:p.Ala296del | |
ENST00000307503.3:c.886_888del | ENSP00000302620.3:p.Ala296del | |
ENST00000470255.1:n.664_666del | ||
NM_000030.2:c.886_888del | NP_000021.1:p.Ala296del | |
NM_000030.3:c.886_888del MANE Select | NP_000021.1:p.Ala296del |