HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6909814_6909815del , CM000686.2:g.6909814_6909815del | GRCh38 |
NC_000024.9:g.6777855_6777856del , CM000686.1:g.6777855_6777856del | GRCh37 |
NC_000024.8:g.6837855_6837856del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651267.2:c.-113+1860_-113+1861del (AMELY) MANE Select | ENSP00000498344.1:n.-113+1860_-113+1861de... | |
ENST00000651267.1:c.-113+1860_-113+1861del (AMELY) | ENSP00000498344.1:n.-113+1860_-113+1861de... | |
XM_011531472.1:c.-113+1860_-113+1861del (AMELY) | XP_011529774.1:n.-113+1860_-113+1861del | |
XM_024452497.1:c.-640_-639del (TBL1Y) | XP_024308265.1:n.-640_-639del | |
NM_001143.2:c.-113+1860_-113+1861del (AMELY) MANE Select | NP_001134.1:n.-113+1860_-113+1861del |