HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118932966del , CM000670.2:g.118932966del | GRCh38 |
NC_000008.10:g.119945205del , CM000670.1:g.119945205del | GRCh37 |
NC_000008.9:g.120014386del | NCBI36 |
NG_012202.1:g.24180del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297350.9:c.366del MANE Select | ENSP00000297350.4:p.Ser123AlafsTer? | |
ENST00000297350.8:c.366del | ENSP00000297350.4:p.Ser123AlafsTer? | |
ENST00000517352.1:c.366del | ENSP00000427924.1:p.Ser123AlafsTer26 | |
NM_002546.3:c.366del | NP_002537.3:p.Ser123AlafsTer? | |
NM_002546.4:c.366del MANE Select | NP_002537.3:p.Ser123AlafsTer? |