HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731933_8731961del , CM000685.2:g.8731933_8731961del | GRCh38 |
NC_000023.10:g.8699974_8700002del , CM000685.1:g.8699974_8700002del | GRCh37 |
NC_000023.9:g.8659974_8660002del | NCBI36 |
NG_007088.1:g.5228_5256del | |
NG_007088.2:g.5228_5256del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.78_106del MANE Select | ENSP00000262648.3:p.Pro27ArgfsTer? | |
ENST00000262648.7:c.78_106del | ENSP00000262648.3:p.Pro27ArgfsTer? | |
ENST00000619786.1:c.77_104del | ||
NM_000216.2:c.78_106del | NP_000207.2:p.Pro27ArgfsTer? | |
XM_005274501.3:c.78_106del | XP_005274558.1:p.Pro27ArgfsTer? | |
NM_000216.3:c.78_106del | NP_000207.2:p.Pro27ArgfsTer? | |
XM_005274501.4:c.78_106del | XP_005274558.1:p.Pro27ArgfsTer? | |
NM_000216.4:c.78_106del MANE Select | NP_000207.2:p.Pro27ArgfsTer? |