HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024019_17024021del , CM000663.2:g.17024019_17024021del | GRCh38 |
NC_000001.10:g.17350514_17350516del , CM000663.1:g.17350514_17350516del | GRCh37 |
NC_000001.9:g.17223101_17223103del | NCBI36 |
NG_012340.1:g.35152_35154del , LRG_316:g.35152_35154del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.425_427del | ENSP00000481376.2:p.Tyr142del | |
ENST00000491274.6:c.554_556del | ENSP00000480482.2:p.Tyr185del | |
ENST00000375499.8:c.596_598del MANE Select | ENSP00000364649.3:p.Tyr199del | |
ENST00000375499.7:c.596_598del | ENSP00000364649.3:p.Tyr199del | |
ENST00000485515.5:n.530_532del | ||
ENST00000491274.5:c.554_556del | ENSP00000480482.1:p.Tyr185del | |
NM_003000.2:c.596_598del , LRG_316t1:c.596_598del | NP_002991.2:p.Tyr199del | |
NM_003000.3:c.596_598del MANE Select | NP_002991.2:p.Tyr199del |