HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37966089_37966090del , CM000670.2:g.37966089_37966090del | GRCh38 |
NC_000008.10:g.37823607_37823608del , CM000670.1:g.37823607_37823608del | GRCh37 |
NC_000008.9:g.37942764_37942765del | NCBI36 |
NG_011936.1:g.5578_5579del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.381_382del MANE Select | ENSP00000343782.3:p.Leu128ValfsTer? | |
ENST00000520341.2:n.509_510del | ||
ENST00000345060.4:c.381_382del | ENSP00000343782.3:p.Leu128ValfsTer? | |
ENST00000614635.1:c.381_382del | ENSP00000480325.1:p.Leu128ValfsTer? | |
NM_000025.2:c.381_382del | NP_000016.1:p.Leu128ValfsTer? | |
NM_000025.3:c.381_382del MANE Select | NP_000016.1:p.Leu128ValfsTer? |