HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034326del , CM000672.2:g.104034326del | GRCh38 |
NC_000010.10:g.105794084del , CM000672.1:g.105794084del | GRCh37 |
NC_000010.9:g.105784074del | NCBI36 |
NG_007069.1:g.56555del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.3529del | ENSP00000358748.3:p.Val1177CysfsTer? | |
ENST00000648076.2:c.3775del MANE Select | ENSP00000497653.1:p.Val1259CysfsTer? | |
ENST00000353479.9:c.3775del | ENSP00000340937.5:p.Val1259CysfsTer? | |
ENST00000369733.7:c.3529del | ENSP00000358748.3:p.Val1177CysfsTer? | |
NM_000494.3:c.3775del | NP_000485.3:p.Val1259CysfsTer? | |
NM_000494.4:c.3775del MANE Select | NP_000485.3:p.Val1259CysfsTer? |