HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566964_137566972del , CM000685.2:g.137566964_137566972del | GRCh38 |
NC_000023.10:g.136649123_136649131del , CM000685.1:g.136649123_136649131del | GRCh37 |
NC_000023.9:g.136476789_136476797del | NCBI36 |
NG_008115.1:g.5778_5786del | |
NG_008115.2:g.5838_5846del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.273_281del MANE Select | ENSP00000287538.5:p.His92_His94del | |
ENST00000287538.9:c.273_281del | ENSP00000287538.5:p.His92_His94del | |
ENST00000370606.3:c.273_281del | ENSP00000359638.3:p.His92_His94del | |
NM_003413.3:c.273_281del | NP_003404.1:p.His92_His94del | |
NM_001330661.1:c.273_281del | NP_001317590.1:p.His92_His94del | |
NM_003413.4:c.273_281del MANE Select | NP_003404.1:p.His92_His94del |