HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226494_5226495del , CM000673.2:g.5226494_5226495del | GRCh38 |
NC_000011.9:g.5247724_5247725del , CM000673.1:g.5247724_5247725del | GRCh37 |
NC_000011.8:g.5204300_5204301del | NCBI36 |
NG_000007.3:g.71121_71122del | |
NG_059281.1:g.5577_5578del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.315+82_315+83del | ENSP00000494175.1:n.315+82_315+83del | |
ENST00000335295.4:c.315+82_315+83del MANE Select | ENSP00000333994.3:n.315+82_315+83del | |
ENST00000475226.1:n.247+82_247+83del | ||
ENST00000485743.1:n.448_449del | ||
ENST00000633227.1:c.*131+82_*131+83del | ENSP00000488004.1:n.*131+82_*131+83del | |
NM_000518.4:c.315+82_315+83del | NP_000509.1:n.315+82_315+83del | |
NM_000518.5:c.315+82_315+83del MANE Select | NP_000509.1:n.315+82_315+83del |