HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64759675_64759676del , CM000673.2:g.64759675_64759676del | GRCh38 |
NC_000011.9:g.64527147_64527148del , CM000673.1:g.64527147_64527148del | GRCh37 |
NC_000011.8:g.64283723_64283724del | NCBI36 |
NG_013018.1:g.6040_6041del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.223_224del MANE Select | ENSP00000164139.3:p.Tyr75LeufsTer2 | |
ENST00000164139.3:c.223_224del | ENSP00000164139.3:p.Tyr75LeufsTer2 | |
ENST00000377432.7:c.223_224del | ENSP00000366650.3:p.Tyr75LeufsTer2 | |
NM_001164716.1:c.223_224del | NP_001158188.1:p.Tyr75LeufsTer2 | |
NM_005609.2:c.223_224del | NP_005600.1:p.Tyr75LeufsTer2 | |
NM_005609.3:c.223_224del | NP_005600.1:p.Tyr75LeufsTer2 | |
NM_005609.4:c.223_224del MANE Select | NP_005600.1:p.Tyr75LeufsTer2 |