HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789567_135789568dup , CM000664.2:g.135789567_135789568dup | GRCh38 |
NC_000002.11:g.136547137_136547138dup , CM000664.1:g.136547137_136547138dup | GRCh37 |
NC_000002.10:g.136263607_136263608dup | NCBI36 |
NG_008104.2:g.70604_70605dup , LRG_338:g.70604_70605dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.5563+5_5563+6dup MANE Select | ENSP00000264162.2:n.5563+5_5563+6dup | |
ENST00000264162.6:c.5563+5_5563+6dup | ENSP00000264162.2:n.5563+5_5563+6dup | |
NM_002299.2:c.5563+5_5563+6dup , LRG_338t1:c.5563+5_5563+6dup | NP_002290.2:n.5563+5_5563+6dup | |
NM_002299.3:c.5563+5_5563+6dup | NP_002290.2:n.5563+5_5563+6dup | |
NM_002299.4:c.5563+5_5563+6dup MANE Select | NP_002290.2:n.5563+5_5563+6dup |