HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55125079_55125080del , CM000666.2:g.55125079_55125080del | GRCh38 |
NC_000004.11:g.55991246_55991247del , CM000666.1:g.55991246_55991247del | GRCh37 |
NC_000004.10:g.55686003_55686004del | NCBI36 |
NG_012004.1:g.5516_5517del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.67+147_67+148del MANE Select | ENSP00000263923.4:n.67+147_67+148del | |
ENST00000263923.4:c.67+147_67+148del | ENSP00000263923.4:n.67+147_67+148del | |
ENST00000512566.1:n.67+147_67+148del | ||
NM_002253.2:c.67+147_67+148del | NP_002244.1:n.67+147_67+148del | |
NM_002253.3:c.67+147_67+148del | NP_002244.1:n.67+147_67+148del | |
NM_002253.4:c.67+147_67+148del MANE Select | NP_002244.1:n.67+147_67+148del |