HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226818_5226825del , CM000673.2:g.5226818_5226825del | GRCh38 |
NC_000011.9:g.5248048_5248055del , CM000673.1:g.5248048_5248055del | GRCh37 |
NC_000011.8:g.5204624_5204631del | NCBI36 |
NG_000007.3:g.70796_70803del | |
NG_059281.1:g.5252_5259del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.93-21_93-14del | ENSP00000494175.1:n.93-21_93-14del | |
ENST00000335295.4:c.93-21_93-14del MANE Select | ENSP00000333994.3:n.93-21_93-14del | |
ENST00000380315.2:c.93-21_93-14del | ENSP00000369671.2:n.93-21_93-14del | |
ENST00000485743.1:n.144-21_144-14del | ||
ENST00000633227.1:c.77-21_77-14del | ENSP00000488004.1:n.77-21_77-14del | |
NM_000518.4:c.93-21_93-14del | NP_000509.1:n.93-21_93-14del | |
NM_000518.5:c.93-21_93-14del MANE Select | NP_000509.1:n.93-21_93-14del |