HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045007_114045008del , CM000672.2:g.114045007_114045008del | GRCh38 |
NC_000010.10:g.115804766_115804767del , CM000672.1:g.115804766_115804767del | GRCh37 |
NC_000010.9:g.115794756_115794757del | NCBI36 |
NG_012187.1:g.5961_5962del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.875_876del MANE Select | ENSP00000358301.2:p.Pro292ArgfsTer16 | |
ENST00000369295.3:c.875_876del | ENSP00000358301.2:p.Pro292ArgfsTer16 | |
NM_000684.2:c.875_876del | NP_000675.1:p.Pro292ArgfsTer16 | |
NM_000684.3:c.875_876del MANE Select | NP_000675.1:p.Pro292ArgfsTer16 |