HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259164_24259176del , CM000676.2:g.24259164_24259176del | GRCh38 |
NC_000014.8:g.24728370_24728382del , CM000676.1:g.24728370_24728382del | GRCh37 |
NC_000014.7:g.23798210_23798222del | NCBI36 |
NG_007150.1:g.8999_9011del | |
NG_007150.2:g.8999_9011del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1066_1078del MANE Select | ENSP00000206765.6:p.Val356ArgfsTer24 | |
ENST00000206765.10:c.1066_1078del | ENSP00000206765.6:p.Val356ArgfsTer24 | |
ENST00000544573.5:c.-28-780_-28-768del | ENSP00000439446.1:n.-28-780_-28-768del | |
ENST00000559136.1:c.139_151del | ENSP00000453337.1:p.Val47ArgfsTer24 | |
NM_000359.2:c.1066_1078del | NP_000350.1:p.Val356ArgfsTer24 | |
NM_000359.3:c.1066_1078del MANE Select | NP_000350.1:p.Val356ArgfsTer24 |