HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55091566_55091567dup , CM000666.2:g.55091566_55091567dup | GRCh38 |
NC_000004.11:g.55957733_55957734dup , CM000666.1:g.55957733_55957734dup | GRCh37 |
NC_000004.10:g.55652490_55652491dup | NCBI36 |
NG_012004.1:g.39029_39030dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263923.5:c.3069+1050_3069+1051dup MANE Select | ENSP00000263923.4:n.3069+1050_3069+1051dup | |
ENST00000647068.1:n.3082+1050_3082+1051dup | ||
ENST00000263923.4:c.3069+1050_3069+1051dup | ENSP00000263923.4:n.3069+1050_3069+1051dup | |
NM_002253.2:c.3069+1050_3069+1051dup | NP_002244.1:n.3069+1050_3069+1051dup | |
NM_002253.3:c.3069+1050_3069+1051dup | NP_002244.1:n.3069+1050_3069+1051dup | |
NM_002253.4:c.3069+1050_3069+1051dup MANE Select | NP_002244.1:n.3069+1050_3069+1051dup |