HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646723_68646724del , CM000666.2:g.68646723_68646724del | GRCh38 |
NC_000004.11:g.69512441_69512442del , CM000666.1:g.69512441_69512442del | GRCh37 |
NC_000004.10:g.69195036_69195037del | NCBI36 |
NG_052676.1:g.29055_29056del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*382_*383del MANE Select | ENSP00000341045.5:n.*382_*383del | |
ENST00000338206.5:c.*382_*383del | ENSP00000341045.5:n.*382_*383del | |
ENST00000616841.4:c.1732+243_1732+244del | ENSP00000482004.1:n.1732+243_1732+244del | |
NM_001076.3:c.*382_*383del | NP_001067.2:n.*382_*383del | |
NM_001076.4:c.*382_*383del MANE Select | NP_001067.2:n.*382_*383del |