HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114570del , CM000667.2:g.140114570del | GRCh38 |
NC_000005.9:g.139494155del , CM000667.1:g.139494155del | GRCh37 |
NC_000005.8:g.139474339del | NCBI36 |
NG_041813.1:g.5448del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.389del MANE Select | ENSP00000332706.3:p.Pro130ArgfsTer? | |
ENST00000651386.1:c.389del | ENSP00000499133.1:p.Pro130ArgfsTer? | |
ENST00000331327.4:c.389del | ENSP00000332706.3:p.Pro130ArgfsTer? | |
NM_005859.4:c.389del | NP_005850.1:p.Pro130ArgfsTer? | |
NM_005859.5:c.389del MANE Select | NP_005850.1:p.Pro130ArgfsTer? |