HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001269del , CM000683.2:g.46001269del | GRCh38 |
NC_000021.8:g.47421183del , CM000683.1:g.47421183del | GRCh37 |
NC_000021.7:g.46245611del | NCBI36 |
NG_008674.1:g.24521del , LRG_475:g.24521del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.238del | ||
ENST00000361866.8:c.1839del MANE Select | ENSP00000355180.3:p.Ile614SerfsTer? | |
ENST00000361866.7:c.1839del | ENSP00000355180.3:p.Ile614SerfsTer? | |
ENST00000463060.5:n.238del | ||
ENST00000498614.5:n.73del | ||
ENST00000612273.1:c.1833del | ENSP00000483630.1:p.Ile612SerfsTer? | |
NM_001848.2:c.1839del , LRG_475t1:c.1839del | NP_001839.2:p.Ile614SerfsTer? | |
NM_001848.3:c.1839del MANE Select | NP_001839.2:p.Ile614SerfsTer? |