HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044190_114044213del , CM000672.2:g.114044190_114044213del | GRCh38 |
NC_000010.10:g.115803949_115803972del , CM000672.1:g.115803949_115803972del | GRCh37 |
NC_000010.9:g.115793939_115793962del | NCBI36 |
NG_012187.1:g.5144_5167del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.58_81del MANE Select | ENSP00000358301.2:p.Ala20_Ala27del | |
ENST00000369295.3:c.58_81del | ENSP00000358301.2:p.Ala20_Ala27del | |
NM_000684.2:c.58_81del | NP_000675.1:p.Ala20_Ala27del | |
NM_000684.3:c.58_81del MANE Select | NP_000675.1:p.Ala20_Ala27del |