HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119676523_119676526del , CM000672.2:g.119676523_119676526del | GRCh38 |
NC_000010.10:g.121436035_121436038del , CM000672.1:g.121436035_121436038del | GRCh37 |
NC_000010.9:g.121426025_121426028del | NCBI36 |
NG_016125.1:g.30154_30157del , LRG_742:g.30154_30157del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.969_972del MANE Select | ENSP00000358081.4:p.Lys324GlnfsTer17 | |
ENST00000369085.7:c.969_972del | ENSP00000358081.3:p.Lys324GlnfsTer17 | |
ENST00000450186.1:c.792_795del | ENSP00000410036.1:p.Lys265GlnfsTer17 | |
NM_004281.3:c.969_972del , LRG_742t1:c.969_972del | NP_004272.2:p.Lys324GlnfsTer17 | |
XM_005270287.1:c.966_969del | XP_005270344.1:p.Lys323GlnfsTer17 | |
XM_005270287.2:c.966_969del | XP_005270344.1:p.Lys323GlnfsTer17 | |
NM_004281.4:c.969_972del MANE Select | NP_004272.2:p.Lys324GlnfsTer17 |