HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84431579_84431580del , CM000664.2:g.84431579_84431580del | GRCh38 |
NC_000002.11:g.84658703_84658704del , CM000664.1:g.84658703_84658704del | GRCh37 |
NC_000002.10:g.84512214_84512215del | NCBI36 |
NG_016755.1:g.32883_32884del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.753_754del MANE Select | ENSP00000377446.2:p.Ile252HisfsTer5 | |
ENST00000651342.1:c.*193_*194del | ENSP00000498471.1:n.*193_*194del | |
ENST00000393868.6:c.753_754del | ENSP00000377446.2:p.Ile252HisfsTer5 | |
ENST00000487809.1:n.500_501del | ||
ENST00000491123.5:n.599_600del | ||
NM_003849.3:c.753_754del | NP_003840.2:p.Ile252HisfsTer5 | |
NM_003849.4:c.753_754del MANE Select | NP_003840.2:p.Ile252HisfsTer5 |