HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63941810del , CM000679.2:g.63941810del | GRCh38 |
NC_000017.10:g.62019170del , CM000679.1:g.62019170del | GRCh37 |
NC_000017.9:g.59372902del | NCBI36 |
NG_011699.1:g.36109del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.4472del MANE Select | ENSP00000396320.1:p.Leu1491ArgfsTer? | |
ENST00000578147.5:c.4472del | ENSP00000463963.1:p.Leu1491ArgfsTer? | |
NM_000334.4:c.4472del MANE Select | NP_000325.4:p.Leu1491ArgfsTer? | |
XM_005257566.3:c.4472del | XP_005257623.1:p.Leu1491ArgfsTer? |