HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586466_41586467delinsGC , CM000679.2:g.41586466_41586467delinsGC | GRCh38 |
NC_000017.10:g.39742718_39742719delinsGC , CM000679.1:g.39742718_39742719delinsGC | GRCh37 |
NC_000017.9:g.36996244_36996245delinsGC | NCBI36 |
NG_008624.1:g.5429_5430delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.368_369delinsGC MANE Select | ENSP00000167586.6:p.Asn123Ser | |
ENST00000167586.6:c.368_369delinsGC | ENSP00000167586.6:p.Asn123Ser | |
NM_000526.4:c.368_369delinsGC | NP_000517.2:p.Asn123Ser | |
NM_000526.5:c.368_369delinsGC MANE Select | NP_000517.3:p.Asn123Ser |