HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992771_177992772insGGGGGGGGCGGGC , CM000667.2:g.177992771_177992772insGGGGGGGGCGGGC | GRCh38 |
NC_000005.9:g.177419772_177419773insGGGGGGGGCGGGC , CM000667.1:g.177419772_177419773insGGGGGGGGCGGGC | GRCh37 |
NC_000005.8:g.177352378_177352379insGGGGGGGGCGGGC | NCBI36 |
NG_015889.1:g.8471_8472insGCCCGCCCCCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.618_619insGCCCGCCCCCCCC MANE Select | ENSP00000311290.2:p.Pro207AlafsTer18 | |
NM_006261.4:c.618_619insGCCCGCCCCCCCC | NP_006252.3:p.Pro207AlafsTer18 | |
NM_006261.5:c.618_619insGCCCGCCCCCCCC MANE Select | NP_006252.4:p.Pro207AlafsTer18 |