HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42404820_42404822del , CM000679.2:g.42404820_42404822del | GRCh38 |
NC_000017.10:g.40556838_40556840del , CM000679.1:g.40556838_40556840del | GRCh37 |
NC_000017.9:g.37810364_37810366del | NCBI36 |
NG_015845.1:g.23508_23510del | |
NG_015845.2:g.23508_23510del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357037.6:c.1047_1049del MANE Select | ENSP00000349541.4:p.Asp349del | |
ENST00000357037.5:c.1047_1049del | ENSP00000349541.4:p.Asp349del | |
NM_012232.5:c.1047_1049del | NP_036364.2:p.Asp349del | |
NM_012232.6:c.1047_1049del MANE Select | NP_036364.2:p.Asp349del |