HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003901_47003903dup , CM000681.2:g.47003901_47003903dup | GRCh38 |
NC_000019.9:g.47507158_47507160dup , CM000681.1:g.47507158_47507160dup | GRCh37 |
NC_000019.8:g.52198998_52199000dup | NCBI36 |
NG_047014.1:g.90335_90337dup | |
NG_047014.2:g.147905_147907dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7713_7715dup | ENSP00000385720.2:n.7713_7715dup | |
ENST00000672722.1:c.*3213_*3215dup MANE Select | ENSP00000500409.1:n.*3213_*3215dup | |
ENST00000404338.7:c.7713_7715dup | ENSP00000385720.2:n.7713_7715dup | |
ENST00000614079.1:c.7290_7292dup | ENSP00000483730.1:n.7290_7292dup | |
NM_004491.4:c.7713_7715dup | NP_004482.4:n.7713_7715dup | |
NM_004491.5:c.*3213_*3215dup MANE Select | NP_004482.4:n.*3213_*3215dup |