HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566973_137566981dup , CM000685.2:g.137566973_137566981dup | GRCh38 |
NC_000023.10:g.136649132_136649140dup , CM000685.1:g.136649132_136649140dup | GRCh37 |
NC_000023.9:g.136476798_136476806dup | NCBI36 |
NG_008115.1:g.5787_5795dup | |
NG_008115.2:g.5847_5855dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.282_290dup MANE Select | ENSP00000287538.5:p.His97_Thr98insHisHisHis | |
ENST00000287538.9:c.282_290dup | ENSP00000287538.5:p.His97_Thr98insHisHisHis | |
ENST00000370606.3:c.282_290dup | ENSP00000359638.3:p.His97_Thr98insHisHisHis | |
NM_003413.3:c.282_290dup | NP_003404.1:p.His97_Thr98insHisHisHis | |
NM_001330661.1:c.282_290dup | NP_001317590.1:p.His97_Thr98insHisHisHis | |
NM_003413.4:c.282_290dup MANE Select | NP_003404.1:p.His97_Thr98insHisHisHis |