HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173177_173179delinsAGC , CM000678.2:g.173177_173179delinsAGC | GRCh38 |
NC_000016.9:g.223176_223178delinsAGC , CM000678.1:g.223176_223178delinsAGC | GRCh37 |
NC_000016.8:g.163176_163178delinsAGC | NCBI36 |
NG_000006.1:g.34040_34042delinsAGC | |
NG_059186.1:g.1527_1529delinsAGC | |
NG_059271.1:g.5331_5333delinsAGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.148_150delinsAGC MANE Select | ENSP00000251595.6:p.Ser50= | |
ENST00000251595.10:c.148_150delinsAGC | ENSP00000251595.6:p.Ser50= | |
ENST00000397806.1:c.52_54delinsAGC | ENSP00000380908.1:p.Ser18= | |
ENST00000482565.1:n.284_286delinsAGC | ||
ENST00000484216.1:n.117_119delinsAGC | ||
NM_000517.4:c.148_150delinsAGC | NP_000508.1:p.Ser50= | |
NM_000517.6:c.148_150delinsAGC MANE Select | NP_000508.1:p.Ser50= |