HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145351_38145353del , CM000670.2:g.38145351_38145353del | GRCh38 |
NC_000008.10:g.38002869_38002871del , CM000670.1:g.38002869_38002871del | GRCh37 |
NC_000008.9:g.38122026_38122028del | NCBI36 |
NG_011827.1:g.10730_10732del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.651-38_651-36del MANE Select | ENSP00000276449.3:n.651-38_651-36del | |
ENST00000276449.8:c.651-38_651-36del | ENSP00000276449.3:n.651-38_651-36del | |
ENST00000520114.1:n.1747_1749del | ||
ENST00000522050.1:c.586+610_586+612del | ||
NM_000349.2:c.651-38_651-36del | NP_000340.2:n.651-38_651-36del | |
XM_006716392.1:c.650+610_650+612del | XP_006716455.1:n.650+610_650+612del | |
NM_000349.3:c.651-38_651-36del MANE Select | NP_000340.2:n.651-38_651-36del |