HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782462_58782467del , CM000663.2:g.58782462_58782467del | GRCh38 |
NC_000001.10:g.59248134_59248139del , CM000663.1:g.59248134_59248139del | GRCh37 |
NC_000001.9:g.59020722_59020727del | NCBI36 |
NG_047027.1:g.6657_6662del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.680_685del | ENSP00000518166.1:p.Gln227_Gln228del | |
ENST00000371222.4:c.614_619del MANE Select | ENSP00000360266.2:p.Gln205_Gln206del | |
ENST00000678696.1:c.614_619del | ENSP00000503132.1:p.Gln205_Gln206del | |
ENST00000371222.3:c.614_619del | ENSP00000360266.2:p.Gln205_Gln206del | |
NM_002228.3:c.614_619del | NP_002219.1:p.Gln205_Gln206del | |
NM_002228.4:c.614_619del MANE Select | NP_002219.1:p.Gln205_Gln206del |