HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88734038del , CM000678.2:g.88734038del | GRCh38 |
NC_000016.9:g.88800446del , CM000678.1:g.88800446del | GRCh37 |
NC_000016.8:g.87327947del | NCBI36 |
NG_042229.1:g.56185del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2199del (PIEZO1) MANE Select | ENSP00000301015.9:p.Thr734ProfsTer? | |
ENST00000301015.13:c.2199del (PIEZO1) | ENSP00000301015.9:p.Thr734ProfsTer? | |
NM_001142864.2:c.2199del (PIEZO1) | NP_001136336.2:p.Thr734ProfsTer? | |
NM_001142864.3:c.2199del (PIEZO1) | NP_001136336.2:p.Thr734ProfsTer? | |
NR_103774.1:n.269+2590del (HSALR1) | ||
NM_001142864.4:c.2199del (PIEZO1) MANE Select | NP_001136336.2:p.Thr734ProfsTer? |