HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226832_5226835del , CM000673.2:g.5226832_5226835del | GRCh38 |
NC_000011.9:g.5248062_5248065del , CM000673.1:g.5248062_5248065del | GRCh37 |
NC_000011.8:g.5204638_5204641del | NCBI36 |
NG_000007.3:g.70785_70788del | |
NG_059281.1:g.5241_5244del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.93-32_93-29del | ENSP00000494175.1:n.93-32_93-29del | |
ENST00000335295.4:c.93-32_93-29del MANE Select | ENSP00000333994.3:n.93-32_93-29del | |
ENST00000380315.2:c.93-32_93-29del | ENSP00000369671.2:n.93-32_93-29del | |
ENST00000485743.1:n.144-32_144-29del | ||
ENST00000633227.1:c.77-32_77-29del | ENSP00000488004.1:n.77-32_77-29del | |
NM_000518.4:c.93-32_93-29del | NP_000509.1:n.93-32_93-29del | |
NM_000518.5:c.93-32_93-29del MANE Select | NP_000509.1:n.93-32_93-29del |