HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794127_77794129dup , CM000671.2:g.77794127_77794129dup | GRCh38 |
NC_000009.11:g.80409043_80409045dup , CM000671.1:g.80409043_80409045dup | GRCh37 |
NC_000009.10:g.79598863_79598865dup | NCBI36 |
NG_027904.2:g.242175_242177dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.735+334_735+336dup MANE Select | ENSP00000286548.4:n.735+334_735+336dup | |
ENST00000286548.8:c.735+334_735+336dup | ENSP00000286548.4:n.735+334_735+336dup | |
NM_002072.4:c.735+334_735+336dup | NP_002063.2:n.735+334_735+336dup | |
XM_017014628.2:c.561+334_561+336dup | XP_016870117.1:n.561+334_561+336dup | |
NM_002072.5:c.735+334_735+336dup MANE Select | NP_002063.2:n.735+334_735+336dup |